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Showing 1–6 of 6 results
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Research |
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
- Marine Legendre
- , Montserrat Rodriguez - Ballesteros
- , Massimiliano Rossi
- , Véronique Abadie
- , Jeanne Amiel
- , Nicole Revencu
- , Patricia Blanchet
- , Frédéric Brioude
- , Marie-Ange Delrue
- , Yassamine Doubaj
- , Abdelaziz Sefiani
- , Christine Francannet
- , Muriel Holder-Espinasse
- , Pierre-Simon Jouk
- , Sophie Julia
- , Judith Melki
- , Sébastien Mur
- , Sophie Naudion
- , Jennifer Fabre-Teste
- , Tiffany Busa
- , Stephen Stamm
- , Stanislas Lyonnet
- , Tania Attie-Bitach
- , Alain Kitzis
- , Brigitte Gilbert-Dussardier
- & Frédéric Bilan
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Research |
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
- Renata L L Ferreira de Lima
- , Sarah A Hoper
- , Michella Ghassibe
- , Margaret E Cooper
- , Nicholas K Rorick
- , Shinji Kondo
- , Lori Katz
- , Mary L Marazita
- , John Compton
- , Sherri Bale
- , Ute Hehr
- , Michael J Dixon
- , Sandra Daack-Hirsch
- , Odile Boute
- , Bénédicte Bayet
- , Nicole Revencu
- , Christine Verellen-Dumoulin
- , Miikka Vikkula
- , Antônio Richieri-Costa
- , Danilo Moretti-Ferreira
- , Jeffrey C Murray
- & Brian C Schutte
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Research |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
- Alexander Hoischen
- , Bregje W M van Bon
- , Christian Gilissen
- , Peer Arts
- , Bart van Lier
- , Marloes Steehouwer
- , Petra de Vries
- , Rick de Reuver
- , Nienke Wieskamp
- , Geert Mortier
- , Koen Devriendt
- , Marta Z Amorim
- , Nicole Revencu
- , Alexa Kidd
- , Mafalda Barbosa
- , Anne Turner
- , Janine Smith
- , Christina Oley
- , Alex Henderson
- , Ian M Hayes
- , Elizabeth M Thompson
- , Han G Brunner
- , Bert B A de Vries
- & Joris A Veltman
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Research |
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
- Siddharth Banka
- , Ratna Veeramachaneni
- , William Reardon
- , Emma Howard
- , Sancha Bunstone
- , Nicola Ragge
- , Michael J Parker
- , Yanick J Crow
- , Bronwyn Kerr
- , Helen Kingston
- , Kay Metcalfe
- , Kate Chandler
- , Alex Magee
- , Fiona Stewart
- , Vivienne P M McConnell
- , Deirdre E Donnelly
- , Siren Berland
- , Gunnar Houge
- , Jenny E Morton
- , Christine Oley
- , Nicole Revencu
- , Soo-Mi Park
- , Sally J Davies
- , Andrew E Fry
- , Sally Ann Lynch
- , Harinder Gill
- , Susann Schweiger
- , Wayne W K Lam
- , John Tolmie
- , Shehla N Mohammed
- , Emma Hobson
- , Audrey Smith
- , Moira Blyth
- , Christopher Bennett
- , Pradeep C Vasudevan
- , Sixto García-Miñaúr
- , Alex Henderson
- , Judith Goodship
- , Michael J Wright
- , Richard Fisher
- , Richard Gibbons
- , Susan M Price
- , Deepthi C de Silva
- , I Karen Temple
- , Amanda L Collins
- , Katherine Lachlan
- , Frances Elmslie
- , Meriel McEntagart
- , Bruce Castle
- , Jill Clayton-Smith
- , Graeme C Black
- & Dian Donnai
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Research | | Open
PEDIA: prioritization of exome data by image analysis
- Tzung-Chien Hsieh
- , Martin A. Mensah
- , Jean T. Pantel
- , Dione Aguilar
- , Omri Bar
- , Allan Bayat
- , Luis Becerra-Solano
- , Heidi B. Bentzen
- , Saskia Biskup
- , Oleg Borisov
- , Oivind Braaten
- , Claudia Ciaccio
- , Marie Coutelier
- , Kirsten Cremer
- , Magdalena Danyel
- , Svenja Daschkey
- , Hilda David Eden
- , Koenraad Devriendt
- , Sandra Wilson
- , Sofia Douzgou
- , Dejan Đukić
- , Nadja Ehmke
- , Christine Fauth
- , Björn Fischer-Zirnsak
- , Nicole Fleischer
- , Heinz Gabriel
- , Luitgard Graul-Neumann
- , Karen W. Gripp
- , Yaron Gurovich
- , Asya Gusina
- , Nechama Haddad
- , Nurulhuda Hajjir
- , Yair Hanani
- , Jakob Hertzberg
- , Konstanze Hoertnagel
- , Janelle Howell
- , Ivan Ivanovski
- , Angela Kaindl
- , Tom Kamphans
- , Susanne Kamphausen
- , Catherine Karimov
- , Hadil Kathom
- , Anna Keryan
- , Alexej Knaus
- , Sebastian Köhler
- , Uwe Kornak
- , Alexander Lavrov
- , Maximilian Leitheiser
- , Gholson J. Lyon
- , Elisabeth Mangold
- , Purificación Marín Reina
- , Antonio Martinez Carrascal
- , Diana Mitter
- , Laura Morlan Herrador
- , Guy Nadav
- , Markus Nöthen
- , Alfredo Orrico
- , Claus-Eric Ott
- , Kristen Park
- , Borut Peterlin
- , Laura Pölsler
- , Annick Raas-Rothschild
- , Linda Randolph
- , Nicole Revencu
- , Christina Ringmann Fagerberg
- , Peter Nick Robinson
- , Stanislav Rosnev
- , Sabine Rudnik
- , Gorazd Rudolf
- , Ulrich Schatz
- , Anna Schossig
- , Max Schubach
- , Or Shanoon
- , Eamonn Sheridan
- , Pola Smirin-Yosef
- , Malte Spielmann
- , Eun-Kyung Suk
- , Yves Sznajer
- , Christian T. Thiel
- , Gundula Thiel
- , Alain Verloes
- , Irena Vrecar
- , Dagmar Wahl
- , Ingrid Weber
- , Korina Winter
- , Marzena Wiśniewska
- , Bernd Wollnik
- , Ming W. Yeung
- , Max Zhao
- , Na Zhu
- , Johannes Zschocke
- , Stefan Mundlos
- , Denise Horn
- & Peter M. Krawitz
