Showing 1–18 of 18 results
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Research |
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Amendments and Corrections |
Correction: Arterial tortuosity syndrome: 40 new families and literature review
- Aude Beyens
- , Juliette Albuisson
- , Annekatrien Boel
- , Mazen Al-Essa
- , Waheed Al-Manea
- , Damien Bonnet
- , Ozlem Bostan
- , Odile Boute
- , Tiffany Busa
- , Nathalie Canham
- , Ergun Cil
- , Paul J. Coucke
- , Margot A. Cousin
- , Majed Dasouki
- , Julie De Backer
- , Anne De Paepe
- , Sofie De Schepper
- , Deepthi De Silva
- , Koenraad Devriendt
- , Inge De Wandele
- , David R. Deyle
- , Harry Dietz
- , Sophie Dupuis-Girod
- , Eudice Fontenot
- , Björn Fischer-Zirnsak
- , Alper Gezdirici
- , Jamal Ghoumid
- , Fabienne Giuliano
- , Neus Baena
- , Mohammed Z. Haider
- , Joshua S. Hardin
- , Xavier Jeunemaitre
- , Eric W. Klee
- , Uwe Kornak
- , Manuel F. Landecho
- , Anne Legrand
- , Bart Loeys
- , Stanislas Lyonnet
- , Helen Michael
- , Pamela Moceri
- , Shehla Mohammed
- , Laura Muiño-Mosquera
- , Sheela Nampoothiri
- , Karin Pichler
- , Katrina Prescott
- , Anna Rajeb
- , Maria Ramos-Arroyo
- , Massimiliano Rossi
- , Mustafa Salih
- , Mohammed Z. Seidahmed
- , Elise Schaefer
- , Elisabeth Steichen-Gersdorf
- , Sehime Temel
- , Fahrettin Uysal
- , Marine Vanhomwegen
- , Lut Van Laer
- , Lionel Van Maldergem
- , David Warner
- , Andy Willaert
- , Tom R. Collins II
- , Andrea Taylor
- , Elaine C. Davis
- , Yuri Zarate
- & Bert Callewaert
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Research |
Mutation in myosin heavy chain 6 causes atrial septal defect
- Yung-Hao Ching
- , Tushar K Ghosh
- , Steve J Cross
- , Elizabeth A Packham
- , Louise Honeyman
- , Siobhan Loughna
- , Thelma E Robinson
- , Andrew M Dearlove
- , Gloria Ribas
- , Andrew J Bonser
- , Neil R Thomas
- , Andrew J Scotter
- , Leo S D Caves
- , Graham P Tyrrell
- , Ruth A Newbury-Ecob
- , Arnold Munnich
- , Damien Bonnet
- & J David Brook
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Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year
- Chantal Stheneur
- , Laurence Faivre
- , Gwenaëlle Collod-Béroud
- , Elodie Gautier
- , Christine Binquet
- , Claire Bonithon-Kopp
- , Mireille Claustres
- , Anne H Child
- , Eloisa Arbustini
- , Lesley C Adès
- , Uta Francke
- , Karin Mayer
- , Mine Arslan-Kirchner
- , Anne De Paepe
- , Bertrand Chevallier
- , Damien Bonnet
- , Guillaume Jondeau
- & Catherine Boileau
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Research |
Arterial tortuosity syndrome: 40 new families and literature review
- Aude Beyens
- , Juliette Albuisson
- , Annekatrien Boel
- , Mazen Al-Essa
- , Waheed Al-Manea
- , Damien Bonnet
- , Ozlem Bostan
- , Odile Boute
- , Tiffany Busa
- , Nathalie Canham
- , Ergun Cil
- , Paul J Coucke
- , Margot A Cousin
- , Majed Dasouki
- , Julie De Backer
- , Anne De Paepe
- , Sofie De Schepper
- , Deepthi De Silva
- , Koenraad Devriendt
- , Inge De Wandele
- , David R Deyle
- , Harry Dietz
- , Sophie Dupuis-Girod
- , Eudice Fontenot
- , Björn Fischer-Zirnsak
- , Alper Gezdirici
- , Jamal Ghoumid
- , Fabienne Giuliano
- , Neus Baena Diéz
- , Mohammed Z Haider
- , Joshua S Hardin
- , Xavier Jeunemaitre
- , Eric W Klee
- , Uwe Kornak
- , Manuel F Landecho
- , Anne Legrand
- , Bart Loeys
- , Stanislas Lyonnet
- , Helen Michael
- , Pamela Moceri
- , Shehla Mohammed
- , Laura Muiño-Mosquera
- , Sheela Nampoothiri
- , Karin Pichler
- , Katrina Prescott
- , Anna Rajeb
- , Maria Ramos-Arroyo
- , Massimiliano Rossi
- , Mustafa Salih
- , Mohammed Z Seidahmed
- , Elise Schaefer
- , Elisabeth Steichen-Gersdorf
- , Sehime Temel
- , Fahrettin Uysal
- , Marine Vanhomwegen
- , Lut Van Laer
- , Lionel Van Maldergem
- , David Warner
- , Andy Willaert
- , Tom R Collins
- , Andrea Taylor
- , Elaine C Davis
- , Yuri Zarate
- & Bert Callewaert
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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
- Eric M Scott
- , Anason Halees
- , Yuval Itan
- , Emily G Spencer
- , Yupeng He
- , Mostafa Abdellateef Azab
- , Stacey B Gabriel
- , Aziz Belkadi
- , Bertrand Boisson
- , Laurent Abel
- , Andrew G Clark
- , Sohair Abdel Rahim
- , Sawsan Abdel-Hadi
- , Ghada Abdel-Salam
- , Ekram Abdel-Salam
- , Mohammed Abdou
- , Avinash Abhytankar
- , Parisa Adimi
- , Jamil Ahmad
- , Mustafa Akcakus
- , Guside Aksu
- , Sami Al Hajjar
- , Suliman Al Juamaah
- , Saleh Al Muhsen
- , Nouriya Al Sannaa
- , Salem Al Tameni
- , Jumana Al-Aama
- , Nasir Al-Allawi
- , Raidah Al-Baradie
- , Lihadh Al-Gazali
- , Amal Al-Hashem
- , Waleed Al-Herz
- , Deema Al-Jeaid
- , Asma Al-Tawari
- , Abdullah Alangari
- , Alexandre Alcais
- , Tariq S AlFawaz
- , Zobaida Alsum
- , Aomar Ammar-Khodja
- , Sepideh Amouian
- , Cigdem Arikan
- , Omid Aryani
- , Ayca Aslanger
- , Cigdem Aydogmus
- , Caner Aytekin
- , Matloob Azam
- , Boglarka Bansagi
- , Mohamed-Rhida Barbouche
- , Laila Bastaki
- , Tawfeg Ben-Omran
- , Parayil Sankaran Bindu
- , Lizbeth Blancas
- , Stéphanie Boisson-Dupuis
- , Damien Bonnet
- , Omar Boudghene Stambouli
- , Aziz Bousfiha
- , Lobna Boussafara
- , Jeannette Boutros
- , Jacinta Bustamante
- , Huseyin Caksen
- , Yildiz Camcioglu
- , Emilie Catherinot
- , Fatma C Celik
- , Michael Ciancanelli
- , Funda E Cipe
- , Gary Clark
- , Aurélie Cobat
- , Sinan Comu
- , Angela Condie
- , Antonio Condino-Neto
- , Mukesh Desai
- , William Dobyns
- , Figen Dogu
- , Mohamed Domaia
- , Meltem Dorum
- , Odul Egritas
- , Safa El Azbaoui
- , Jamila El Baghdadi
- , Mona El Ruby
- , Ashraf El-Harouni
- , Reem A Elfeky
- , Gehad Elghazali
- , Eissa Faqeih
- , Elif Fenerci
- , Claire Fieschi
- , Cipe Funda
- , Iman Gamal
- , Umit Gelik
- , Fetah Genel
- , Alper Gezdirici
- , Katta M Girisha
- , Amy Goldstein
- , Padraic Grattan-Smith
- , Neerja Gupta
- , Jin Hahn
- , Nevin Hatipoglu
- , Raoul Hennekam
- , Massoud Houshmand
- , Philippe Ichai
- , Aydan Ikinciogullari
- , Samira Ismail
- , Chaim Jalas
- , Emmanuelle Jouanguy
- , Madhulika Kabra
- , Göknur Kalkan
- , Majdi Kara
- , Neslihan Karaca
- , Kadri Karaer
- , Ariana Kariminejad
- , Hulya Kayserili
- , Melike Keser-Emiroglu
- , Sara S Kilic
- , Najib Kissani
- , Cristina Kokron
- , Roshan Koul
- , Necil Kutukculer
- , Fanny Lanternier
- , Alireza Mahdaviani
- , Nizar Mahlaoui
- , Lobna Mansour
- , Davood Mansouri
- , Lucia Margari
- , Enza Maria Valente
- , Naima Marzouki
- , Amira Masri
- , Amina Megahed
- , Hisham Megahed
- , Najla Mekki
- , Mehrnaz Mesdaghi
- , Mohd Mikati
- , Faezeh Mojahedi
- , John Mulley
- , Sheela Nampoothiri
- , Carmen Navarrete
- , Tarek Omar
- , Azza Oraby
- , Ayse Pandaluz
- , Nima Parvaneh
- , Turkan Patiroglu
- , Zeynep Peker Koc
- , Isabelle Pellier
- , Capucine Picard
- , Anne Puel
- , Annick Raas-Rothschild
- , Anna Rajab
- , Didier Raoult
- , Ismail Reisli
- , Nima Rezaei
- , Ayoub Sabri
- , Yasin Sahin
- , Laila Saleem
- , Fadia Salem
- , Najla Sameer AlSediq
- , Ozden Sanal
- , Terry Sanger
- , Hanan Shakankiry
- , Lei Shang
- , Nabil Shehata
- , Nuri Shembesh
- , Vared Shkalim
- , Ameen Softah
- , Sameera Sogaty
- , Neveen Soliman
- , Fatma Sonmez-Aunaci
- , Laszlo Sztriha
- , Lynda Taibi-Berrah
- , Samia Temtamy
- , Hasan Tonekaboni
- , Doris Trauner
- , Beyhan Tuysuz
- , Beyhan Tuysuz
- , Ali Varan
- , Guillaume Vogt
- , Christopher Walsh
- , Geoffrey Woods
- , Gozde Yesil
- , Alisan Yildiran
- , Basak Yildiz
- , Adnan Yuksel
- , Maha Zaki
- , Shen-Ying Zhang
- , Fowzan S Alkuraya
- , Jean-Laurent Casanova
- & Joseph G Gleeson
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Research |
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field
- Rajae El Malti
- , Hui Liu
- , Bérénice Doray
- , Christel Thauvin
- , Alice Maltret
- , Claire Dauphin
- , Miguel Gonçalves-Rocha
- , Michel Teboul
- , Patricia Blanchet
- , Joëlle Roume
- , Céline Gronier
- , Corinne Ducreux
- , Magali Veyrier
- , François Marçon
- , Philippe Acar
- , Jean-René Lusson
- , Marilyne Levy
- , Constance Beyler
- , Jacqueline Vigneron
- , Marie-Pierre Cordier-Alex
- , François Heitz
- , Damien Sanlaville
- , Damien Bonnet
- & Patrice Bouvagnet
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Research |
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
- Anne Guimier
- , George C Gabriel
- , Fanny Bajolle
- , Michael Tsang
- , Hui Liu
- , Aaron Noll
- , Molly Schwartz
- , Rajae El Malti
- , Laurie D Smith
- , Nikolai T Klena
- , Gina Jimenez
- , Neil A Miller
- , Myriam Oufadem
- , Anne Moreau de Bellaing
- , Hisato Yagi
- , Carol J Saunders
- , Candice N Baker
- , Sylvie Di Filippo
- , Kevin A Peterson
- , Isabelle Thiffault
- , Christine Bole-Feysot
- , Linda D Cooley
- , Emily G Farrow
- , Cécile Masson
- , Patric Schoen
- , Jean-François Deleuze
- , Patrick Nitschké
- , Stanislas Lyonnet
- , Loic de Pontual
- , Stephen A Murray
- , Damien Bonnet
- , Stephen F Kingsmore
- , Jeanne Amiel
- , Patrice Bouvagnet
- , Cecilia W Lo
- & Christopher T Gordon
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Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
- Bertrand Boisson
- , Emmanuel Laplantine
- , Carolina Prando
- , Silvia Giliani
- , Elisabeth Israelsson
- , Zhaohui Xu
- , Avinash Abhyankar
- , Laura Israël
- , Giraldina Trevejo-Nunez
- , Dusan Bogunovic
- , Alma-Martina Cepika
- , Donna MacDuff
- , Maya Chrabieh
- , Marjorie Hubeau
- , Fanny Bajolle
- , Marianne Debré
- , Evelina Mazzolari
- , Donatella Vairo
- , Fabrice Agou
- , Herbert W Virgin
- , Xavier Bossuyt
- , Caroline Rambaud
- , Fabio Facchetti
- , Damien Bonnet
- , Pierre Quartier
- , Jean-Christophe Fournet
- , Virginia Pascual
- , Damien Chaussabel
- , Luigi D Notarangelo
- , Anne Puel
- , Alain Israël
- , Jean-Laurent Casanova
- & Capucine Picard
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