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Amendments and Corrections |
Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes
- Sabine A. Fuchs
- , Imre F. Schene
- , Gautam Kok
- , Jurriaan M. Jansen
- , Peter G. J. Nikkels
- , Koen L. I. van Gassen
- , Suzanne W. J. Terheggen-Lagro
- , Saskia N. van der Crabben
- , Sanne E. Hoeks
- , Laetitia E. M. Niers
- , Nicole I. Wolf
- , Maaike C. de Vries
- , David A. Koolen
- , Roderick H. J. Houwen
- , Margot F. Mulder
- & Peter M. van Hasselt
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Research |
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
- Hannah Stamberger
- , Trine B. Hammer
- , Elena Gardella
- , Danique R. M. Vlaskamp
- , Birgitte Bertelsen
- , Simone Mandelstam
- , Iris de Lange
- , Jing Zhang
- , Candace T. Myers
- , Christina Fenger
- , Zaid Afawi
- , Edith P. Almanza Fuerte
- , Danielle M. Andrade
- , Yunus Balcik
- , Bruria Ben Zeev
- , Mark F. Bennett
- , Samuel F. Berkovic
- , Bertrand Isidor
- , Arjan Bouman
- , Eva Brilstra
- , Øyvind L. Busk
- , Anita Cairns
- , Roseline Caumes
- , Nicolas Chatron
- , Russell C. Dale
- , Christa de Geus
- , Patrick Edery
- , Deepak Gill
- , Jacob Bie Granild-Jensen
- , Lauren Gunderson
- , Boudewijn Gunning
- , Gali Heimer
- , Johan R. Helle
- , Michael S. Hildebrand
- , Georgie Hollingsworth
- , Volodymyr Kharytonov
- , Eric W. Klee
- , Bobby P. C. Koeleman
- , David A. Koolen
- , Christian Korff
- , Sébastien Küry
- , Gaetan Lesca
- , Dorit Lev
- , Richard J. Leventer
- , Mark T. Mackay
- , Erica L. Macke
- , Meriel McEntagart
- , Shekeeb S. Mohammad
- , Pauline Monin
- , Martino Montomoli
- , Eva Morava
- , Sebastien Moutton
- , Alison M. Muir
- , Elena Parrini
- , Peter Procopis
- , Emmanuelle Ranza
- , Laura Reed
- , Philipp S. Reif
- , Felix Rosenow
- , Massimiliano Rossi
- , Lynette G. Sadleir
- , Tara Sadoway
- , Helenius J. Schelhaas
- , Amy L. Schneider
- , Krati Shah
- , Ruth Shalev
- , Sanjay M. Sisodiya
- , Thomas Smol
- , Connie T. R. M. Stumpel
- , Kyra Stuurman
- , Joseph D. Symonds
- , Frederic Tran Mau-Them
- , Nienke Verbeek
- , Judith S. Verhoeven
- , Geoffrey Wallace
- , Keren Yosovich
- , Yuri A. Zarate
- , Ayelet Zerem
- , Sameer M. Zuberi
- , Renzo Guerrini
- , Heather C. Mefford
- , Chirag Patel
- , Yue-Hua Zhang
- , Rikke S. Møller
- & Ingrid E. Scheffer
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Research |
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
- Eline A. Verberne
- , Shuxiang Goh
- , Jade England
- , Manon van Ginkel
- , Louise Rafael-Croes
- , Saskia Maas
- , Abeltje Polstra
- , Yuri A. Zarate
- , Katherine A. Bosanko
- , Kieran B. Pechter
- , Emma Bedoukian
- , Kosuke Izumi
- , Ayeshah Chaudhry
- , Nathaniel H. Robin
- , Megan Boothe
- , Natalie C. Lippa
- , Vimla Aggarwal
- , Darryl C. De Vivo
- , Anna Lehman
- , Causes Study
- , Sylvia Stockler
- , Ange-Line Bruel
- , Bertrand Isidor
- , Jennifer Lemons
- , David F. Rodriguez-Buritica
- , Christopher M. Richmond
- , Zornitza Stark
- , Pankaj B. Agrawal
- , R. Frank Kooy
- , Marije E. C. Meuwissen
- , David A. Koolen
- , Rolf Pfundt
- , Agne Lieden
- , Britt-Marie Anderlid
- , Dagmar Glatz
- , Marcel M. A. M. Mannens
- , Madhura Bakshi
- , Frédérick A. Mallette
- , Mieke M. van Haelst
- & Philippe M. Campeau
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Research |
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
- Maria J. Nabais Sá
- , Hanka Venselaar
- , Laurens Wiel
- , Aurélien Trimouille
- , Eulalie Lasseaux
- , Sophie Naudion
- , Didier Lacombe
- , Amélie Piton
- , Catherine Vincent-Delorme
- , Christiane Zweier
- , André Reis
- , Regina Trollmann
- , Anna Ruiz
- , Elisabeth Gabau
- , Annalisa Vetro
- , Renzo Guerrini
- , Somayeh Bakhtiari
- , Michael C. Kruer
- , David J. Amor
- , Monica S. Cooper
- , Emilia K. Bijlsma
- , Tahsin Stefan Barakat
- , Marieke F. van Dooren
- , Marjon van Slegtenhorst
- , Rolph Pfundt
- , Christian Gilissen
- , Michèl A. Willemsen
- , Bert B. A. de Vries
- , Arjan P. M. de Brouwer
- & David A. Koolen
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Amendments and Corrections |
Correction: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
- Bregje WM van Bon
- , David A Koolen
- , Louise Brueton
- , Dominic McMullan
- , Klaske D Lichtenbelt
- , Lesley C Adès
- , Gregory Peters
- , Kate Gibson
- , Francesca Novara
- , Tiziano Pramparo
- , Bernardo Dalla Bernardina
- , Leonardo Zoccante
- , Umberto Balottin
- , Fausta Piazza
- , Vanna Pecile
- , Paolo Gasparini
- , Veronica Guerci
- , Marleen Kets
- , Rolph Pfundt
- , Arjan P de Brouwer
- , Joris A Veltman
- , Nicole de Leeuw
- , Meredith Wilson
- , Jayne Antony
- , Santina Reitano
- , Daniela Luciano
- , Marco Fichera
- , Corrado Romano
- , Han G Brunner
- , Orsetta Zuffardi
- & Bert BA de Vries
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Research |
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
- David A Koolen
- , Lisenka E L M Vissers
- , Rolph Pfundt
- , Nicole de Leeuw
- , Samantha JL Knight
- , Regina Regan
- , R Frank Kooy
- , Edwin Reyniers
- , Corrado Romano
- , Marco Fichera
- , Albert Schinzel
- , Alessandra Baumer
- , Britt-Marie Anderlid
- , Jacqueline Schoumans
- , Nine V Knoers
- , Ad Geurts van Kessel
- , Erik A Sistermans
- , Joris A Veltman
- , Han G Brunner
- & Bert B A de Vries
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Amendments and Corrections |
Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
- Bregje W M van Bon
- , David A Koolen
- , Louise Brueton
- , Dominic McMullan
- , Klaske D Lichtenbelt
- , Lesley C Adès
- , Gregory Peters
- , Kate Gibson
- , Susan Moloney
- , Francesca Novara
- , Tiziano Pramparo
- , Bernardo Dalla Bernardina
- , Leonardo Zoccante
- , Umberto Balottin
- , Fausta Piazza
- , Vanna Pecile
- , Paolo Gasparini
- , Veronica Guerci
- , Marleen Kets
- , Rolph Pfundt
- , Arjan P de Brouwer
- , Joris A Veltman
- , Nicole de Leeuw
- , Meredith Wilson
- , Jayne Antony
- , Santina Reitano
- , Daniela Luciano
- , Marco Fichera
- , Corrado Romano
- , Han G Brunner
- , Orsetta Zuffardi
- & Bert BA de Vries
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Research | | Open
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Research |
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Research |
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
- Joost Kummeling
- , Diante E. Stremmelaar
- , Nicholas Raun
- , Margot R. F. Reijnders
- , Marjolein H. Willemsen
- , Martina Ruiterkamp-Versteeg
- , Marga Schepens
- , Calvin C. O. Man
- , Christian Gilissen
- , Megan T. Cho
- , Kirsty McWalter
- , Margje Sinnema
- , James W. Wheless
- , Marleen E. H. Simon
- , Casie A. Genetti
- , Alicia M. Casey
- , Paulien A. Terhal
- , Jasper J. van der Smagt
- , Koen L. I. van Gassen
- , Pascal Joset
- , Angela Bahr
- , Katharina Steindl
- , Anita Rauch
- , Elmar Keller
- , Annick Raas-Rothschild
- , David A. Koolen
- , Pankaj B. Agrawal
- , Trevor L. Hoffman
- , Nina N. Powell-Hamilton
- , Isabelle Thiffault
- , Kendra Engleman
- , Dihong Zhou
- , Olaf Bodamer
- , Julia Hoefele
- , Korbinian M. Riedhammer
- , Eva M. C. Schwaibold
- , Velibor Tasic
- , Dirk Schubert
- , Deniz Top
- , Rolph Pfundt
- , Martin R. Higgs
- , Jamie M. Kramer
- & Tjitske Kleefstra
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Research |
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Research |
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
- David A Koolen
- , Jamie M Kramer
- , Kornelia Neveling
- , Willy M Nillesen
- , Heather L Moore-Barton
- , Frances V Elmslie
- , Annick Toutain
- , Jeanne Amiel
- , Valérie Malan
- , Anne Chun-Hui Tsai
- , Sau Wai Cheung
- , Christian Gilissen
- , Eugene T P Verwiel
- , Sarah Martens
- , Ton Feuth
- , Ernie M H F Bongers
- , Petra de Vries
- , Hans Scheffer
- , Lisenka E L M Vissers
- , Arjan P M de Brouwer
- , Han G Brunner
- , Joris A Veltman
- , Annette Schenck
- , Helger G Yntema
- & Bert B A de Vries
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Research |
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Research |
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Research |
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Research | | Open
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
- Holger Hengel
- , Célia Bosso-Lefèvre
- , George Grady
- , Emmanuelle Szenker-Ravi
- , Hankun Li
- , Sarah Pierce
- , Élise Lebigot
- , Thong-Teck Tan
- , Michelle Y. Eio
- , Gunaseelan Narayanan
- , Kagistia Hana Utami
- , Monica Yau
- , Nader Handal
- , Werner Deigendesch
- , Reinhard Keimer
- , Hiyam M. Marzouqa
- , Meral Gunay-Aygun
- , Michael J. Muriello
- , Helene Verhelst
- , Sarah Weckhuysen
- , Sonal Mahida
- , Sakkubai Naidu
- , Terrence G. Thomas
- , Jiin Ying Lim
- , Ee Shien Tan
- , Damien Haye
- , Michèl A. A. P. Willemsen
- , Renske Oegema
- , Wendy G. Mitchell
- , Tyler Mark Pierson
- , Marisa V. Andrews
- , Marcia C. Willing
- , Lance H. Rodan
- , Tahsin Stefan Barakat
- , Marjon van Slegtenhorst
- , Ralitza H. Gavrilova
- , Diego Martinelli
- , Tal Gilboa
- , Abdullah M. Tamim
- , Mais O. Hashem
- , Moeenaldeen D. AlSayed
- , Maha M. Abdulrahim
- , Mohammed Al-Owain
- , Ali Awaji
- , Adel A. H. Mahmoud
- , Eissa A. Faqeih
- , Ali Al Asmari
- , Sulwan M. Algain
- , Lamyaa A. Jad
- , Hesham M. Aldhalaan
- , Ingo Helbig
- , David A. Koolen
- , Angelika Riess
- , Ingeborg Kraegeloh-Mann
- , Peter Bauer
- , Suleyman Gulsuner
- , Hannah Stamberger
- , Alvin Yu Jin Ng
- , Sha Tang
- , Sumanty Tohari
- , Boris Keren
- , Laura E. Schultz-Rogers
- , Eric W. Klee
- , Sabina Barresi
- , Marco Tartaglia
- , Hagar Mor-Shaked
- , Sateesh Maddirevula
- , Amber Begtrup
- , Aida Telegrafi
- , Rolph Pfundt
- , Rebecca Schüle
- , Brian Ciruna
- , Carine Bonnard
- , Mahmoud A. Pouladi
- , James C. Stewart
- , Adam Claridge-Chang
- , Dirk J. Lefeber
- , Fowzan S. Alkuraya
- , Ajay S. Mathuru
- , Byrappa Venkatesh
- , Joseph J. Barycki
- , Melanie A. Simpson
- , Saumya S. Jamuar
- , Ludger Schöls
- & Bruno Reversade
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Research |
Aminoacyl-tRNA synthetase deficiencies in search of common themes
- Sabine A. Fuchs
- , Imre F. Schene
- , Gautam Kok
- , Jurriaan M. Jansen
- , Peter G. J. Nikkels
- , Koen L. I. van Gassen
- , Suzanne W. J. Terheggen-Lagro
- , Saskia N. van der Crabben
- , Sanne E. Hoeks
- , Laetitia E. M. Niers
- , Nicole I. Wolf
- , Maaike C. de Vries
- , David A. Koolen
- , Roderick H. J. Houwen
- , Margot F. Mulder
- & Peter M. van Hasselt
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Research |
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Claire Redin
- , Harrison Brand
- , Ryan L Collins
- , Tammy Kammin
- , Elyse Mitchell
- , Jennelle C Hodge
- , Carrie Hanscom
- , Vamsee Pillalamarri
- , Catarina M Seabra
- , Mary-Alice Abbott
- , Omar A Abdul-Rahman
- , Erika Aberg
- , Rhett Adley
- , Sofia L Alcaraz-Estrada
- , Fowzan S Alkuraya
- , Yu An
- , Mary-Anne Anderson
- , Caroline Antolik
- , Kwame Anyane-Yeboa
- , Joan F Atkin
- , Tina Bartell
- , Jonathan A Bernstein
- , Elizabeth Beyer
- , Ian Blumenthal
- , Ernie M H F Bongers
- , Eva H Brilstra
- , Chester W Brown
- , Hennie T Brüggenwirth
- , Bert Callewaert
- , Colby Chiang
- , Ken Corning
- , Helen Cox
- , Edwin Cuppen
- , Benjamin B Currall
- , Tom Cushing
- , Dezso David
- , Matthew A Deardorff
- , Annelies Dheedene
- , Marc D'Hooghe
- , Bert B A de Vries
- , Dawn L Earl
- , Heather L Ferguson
- , Heather Fisher
- , David R FitzPatrick
- , Pamela Gerrol
- , Daniela Giachino
- , Joseph T Glessner
- , Troy Gliem
- , Margo Grady
- , Brett H Graham
- , Cristin Griffis
- , Karen W Gripp
- , Andrea L Gropman
- , Andrea Hanson-Kahn
- , David J Harris
- , Mark A Hayden
- , Rosamund Hill
- , Ron Hochstenbach
- , Jodi D Hoffman
- , Robert J Hopkin
- , Monika W Hubshman
- , A Micheil Innes
- , Mira Irons
- , Melita Irving
- , Jessie C Jacobsen
- , Sandra Janssens
- , Tamison Jewett
- , John P Johnson
- , Marjolijn C Jongmans
- , Stephen G Kahler
- , David A Koolen
- , Jerome Korzelius
- , Peter M Kroisel
- , Yves Lacassie
- , William Lawless
- , Emmanuelle Lemyre
- , Kathleen Leppig
- , Alex V Levin
- , Haibo Li
- , Hong Li
- , Eric C Liao
- , Cynthia Lim
- , Edward J Lose
- , Diane Lucente
- , Michael J Macera
- , Poornima Manavalan
- , Giorgia Mandrile
- , Carlo L Marcelis
- , Lauren Margolin
- , Tamara Mason
- , Diane Masser-Frye
- , Michael W McClellan
- , Cinthya J Zepeda Mendoza
- , Björn Menten
- , Sjors Middelkamp
- , Liya R Mikami
- , Emily Moe
- , Shehla Mohammed
- , Tarja Mononen
- , Megan E Mortenson
- , Graciela Moya
- , Aggie W Nieuwint
- , Zehra Ordulu
- , Sandhya Parkash
- , Susan P Pauker
- , Shahrin Pereira
- , Danielle Perrin
- , Katy Phelan
- , Raul E Piña Aguilar
- , Pino J Poddighe
- , Giulia Pregno
- , Salmo Raskin
- , Linda Reis
- , William Rhead
- , Debra Rita
- , Ivo Renkens
- , Filip Roelens
- , Jayla Ruliera
- , Patrick Rump
- , Samantha L P Schilit
- , Ranad Shaheen
- , Rebecca Sparkes
- , Erica Spiegel
- , Blair Stevens
- , Matthew R Stone
- , Julia Tagoe
- , Joseph V Thakuria
- , Bregje W van Bon
- , Jiddeke van de Kamp
- , Ineke van Der Burgt
- , Ton van Essen
- , Conny M van Ravenswaaij-Arts
- , Markus J van Roosmalen
- , Sarah Vergult
- , Catharina M L Volker-Touw
- , Dorothy P Warburton
- , Matthew J Waterman
- , Susan Wiley
- , Anna Wilson
- , Maria de la Concepcion A Yerena-de Vega
- , Roberto T Zori
- , Brynn Levy
- , Han G Brunner
- , Nicole de Leeuw
- , Wigard P Kloosterman
- , Erik C Thorland
- , Cynthia C Morton
- , James F Gusella
- & Michael E Talkowski
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Research |
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
- David A Koolen
- , Rolph Pfundt
- , Katrin Linda
- , Gea Beunders
- , Hermine E Veenstra-Knol
- , Jessie H Conta
- , Ana Maria Fortuna
- , Gabriele Gillessen-Kaesbach
- , Sarah Dugan
- , Sara Halbach
- , Omar A Abdul-Rahman
- , Heather M Winesett
- , Wendy K Chung
- , Marguerite Dalton
- , Petia S Dimova
- , Teresa Mattina
- , Katrina Prescott
- , Hui Z Zhang
- , Howard M Saal
- , Jayne Y Hehir-Kwa
- , Marjolein H Willemsen
- , Charlotte W Ockeloen
- , Marjolijn C Jongmans
- , Nathalie Van der Aa
- , Pinella Failla
- , Concetta Barone
- , Emanuela Avola
- , Alice S Brooks
- , Sarina G Kant
- , Erica H Gerkes
- , Helen V Firth
- , Katrin Õunap
- , Lynne M Bird
- , Diane Masser-Frye
- , Jennifer R Friedman
- , Modupe A Sokunbi
- , Abhijit Dixit
- , Miranda Splitt
- , Mary K Kukolich
- , Julie McGaughran
- , Bradley P Coe
- , Jesús Flórez
- , Nael Nadif Kasri
- , Han G Brunner
- , Elizabeth M Thompson
- , Jozef Gecz
- , Corrado Romano
- , Evan E Eichler
- & Bert BA de Vries
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Research |
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
- Sébastien Jacquemont
- , Alexandre Reymond
- , Flore Zufferey
- , Louise Harewood
- , Robin G. Walters
- , Zoltán Kutalik
- , Danielle Martinet
- , Yiping Shen
- , Armand Valsesia
- , Noam D. Beckmann
- , Gudmar Thorleifsson
- , Marco Belfiore
- , Sonia Bouquillon
- , Dominique Campion
- , Nicole de Leeuw
- , Bert B. A. de Vries
- , Tõnu Esko
- , Bridget A. Fernandez
- , Fernando Fernández-Aranda
- , José Manuel Fernández-Real
- , Mònica Gratacòs
- , Audrey Guilmatre
- , Juliane Hoyer
- , Marjo-Riitta Jarvelin
- , R. Frank Kooy
- , Ants Kurg
- , Cédric Le Caignec
- , Katrin Männik
- , Orah S. Platt
- , Damien Sanlaville
- , Mieke M. Van Haelst
- , Sergi Villatoro Gomez
- , Faida Walha
- , Bai-lin Wu
- , Yongguo Yu
- , Azzedine Aboura
- , Marie-Claude Addor
- , Yves Alembik
- , Stylianos E. Antonarakis
- , Benoît Arveiler
- , Magalie Barth
- , Nathalie Bednarek
- , Frédérique Béna
- , Sven Bergmann
- , Mylène Beri
- , Laura Bernardini
- , Bettina Blaumeiser
- , Dominique Bonneau
- , Armand Bottani
- , Odile Boute
- , Han G. Brunner
- , Dorothée Cailley
- , Patrick Callier
- , Jean Chiesa
- , Jacqueline Chrast
- , Lachlan Coin
- , Charles Coutton
- , Jean-Marie Cuisset
- , Jean-Christophe Cuvellier
- , Albert David
- , Bénédicte de Freminville
- , Bruno Delobel
- , Marie-Ange Delrue
- , Bénédicte Demeer
- , Dominique Descamps
- , Gérard Didelot
- , Klaus Dieterich
- , Vittoria Disciglio
- , Martine Doco-Fenzy
- , Séverine Drunat
- , Bénédicte Duban-Bedu
- , Christèle Dubourg
- , Julia S. El-Sayed Moustafa
- , Paul Elliott
- , Brigitte H. W. Faas
- , Laurence Faivre
- , Anne Faudet
- , Florence Fellmann
- , Alessandra Ferrarini
- , Richard Fisher
- , Elisabeth Flori
- , Lukas Forer
- , Dominique Gaillard
- , Marion Gerard
- , Christian Gieger
- , Stefania Gimelli
- , Giorgio Gimelli
- , Hans J. Grabe
- , Agnès Guichet
- , Olivier Guillin
- , Anna-Liisa Hartikainen
- , Délphine Heron
- , Loyse Hippolyte
- , Muriel Holder
- , Georg Homuth
- , Bertrand Isidor
- , Sylvie Jaillard
- , Zdenek Jaros
- , Susana Jiménez-Murcia
- , Géraldine Joly Helas
- , Philippe Jonveaux
- , Satu Kaksonen
- , Boris Keren
- , Anita Kloss-Brandstätter
- , Nine V. A. M. Knoers
- , David A. Koolen
- , Peter M. Kroisel
- , Florian Kronenberg
- , Audrey Labalme
- , Emilie Landais
- , Elisabetta Lapi
- , Valérie Layet
- , Solenn Legallic
- , Bruno Leheup
- , Barbara Leube
- , Suzanne Lewis
- , Josette Lucas
- , Kay D. MacDermot
- , Pall Magnusson
- , Christian Marshall
- , Michèle Mathieu-Dramard
- , Mark I. McCarthy
- , Thomas Meitinger
- , Maria Antonietta Mencarelli
- , Giuseppe Merla
- , Alexandre Moerman
- , Vincent Mooser
- , Fanny Morice-Picard
- , Mafalda Mucciolo
- , Matthias Nauck
- , Ndeye Coumba Ndiaye
- , Ann Nordgren
- , Laurent Pasquier
- , Florence Petit
- , Rolph Pfundt
- , Ghislaine Plessis
- , Evica Rajcan-Separovic
- , Gian Paolo Ramelli
- , Anita Rauch
- , Roberto Ravazzolo
- , Andre Reis
- , Alessandra Renieri
- , Cristobal Richart
- , Janina S. Ried
- , Claudine Rieubland
- , Wendy Roberts
- , Katharina M. Roetzer
- , Caroline Rooryck
- , Massimiliano Rossi
- , Evald Saemundsen
- , Véronique Satre
- , Claudia Schurmann
- , Engilbert Sigurdsson
- , Dimitri J. Stavropoulos
- , Hreinn Stefansson
- , Carola Tengström
- , Unnur Thorsteinsdóttir
- , Francisco J. Tinahones
- , Renaud Touraine
- , Louis Vallée
- , Ellen van Binsbergen
- , Nathalie Van der Aa
- , Catherine Vincent-Delorme
- , Sophie Visvikis-Siest
- , Peter Vollenweider
- , Henry Völzke
- , Anneke T. Vulto-van Silfhout
- , Gérard Waeber
- , Carina Wallgren-Pettersson
- , Robert M. Witwicki
- , Simon Zwolinksi
- , Joris Andrieux
- , Xavier Estivill
- , James F. Gusella
- , Omar Gustafsson
- , Andres Metspalu
- , Stephen W. Scherer
- , Kari Stefansson
- , Alexandra I. F. Blakemore
- , Jacques S. Beckmann
- & Philippe Froguel
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Research |
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
- Bregje WM van Bon
- , David A Koolen
- , Louise Brueton
- , Dominic McMullan
- , Klaske D Lichtenbelt
- , Lesley C Adès
- , Gregory Peters
- , Kate Gibson
- , Francesca Novara
- , Tiziano Pramparo
- , Bernardo Dalla Bernardina
- , Leonardo Zoccante
- , Umberto Balottin
- , Fausta Piazza
- , Vanna Pecile
- , Paolo Gasparini
- , Veronica Guerci
- , Marleen Kets
- , Rolph Pfundt
- , Arjan P de Brouwer
- , Joris A Veltman
- , Nicole de Leeuw
- , Meredith Wilson
- , Jayne Antony
- , Santina Reitano
- , Daniela Luciano
- , Marco Fichera
- , Corrado Romano
- , Han G Brunner
- , Orsetta Zuffardi
- & Bert BA de Vries
