2 research outputs found
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
- Author
- Abler
- Abou Hassan
- Agulnik
- Al-Senan
- Albers
- Alvares
- Amanda S. Freed
- Andrew J. Gifford
- Anna F. Lee
- Anne Chun-Hui Tsai
- Archie
- Ardini-Poleske
- Arie van Haeringen
- Arnaud Molin
- Arora
- Ballif
- Barnett
- Bellusci
- Benjamin Cogné
- Bertrand Isidor
- Bolger
- Bongers
- Brandler
- Bruce Bennetts
- Catherine L. Mercer
- Catherine Ward-Melver
- Cebra-Thomas
- Cedric Le Caignec
- Chambers
- Chantal Missirian
- Chester W. Brown
- Chow
- Claire Bénéteau
- Claudia G. Gonzaga-Jauregui
- Coban-Akdemir
- Cornelius F. Boerkoel
- Daley
- Damien Sanlaville
- Daryl A. Scott
- David Mowat
- Davidson
- DeBoer
- Dominique Carles
- Don
- Dorothy K. Grange
- Edwina Popek
- Entesarian
- Entesarian
- Eric Bieth
- Fernando Scaglia
- Firth
- Florence Petit
- Francesco Vetrini
- Gail Deutsch
- Galen M. Schauer
- Ghoussaini
- Gillespie
- Gwenaelle André
- Hastings
- Heather C. Mefford
- Hegde
- Hnisz
- Horie
- Iben Bache
- James R. Lupski
- Jean P. Pfotenhauer
- Jean-Michel Liet
- Jelena Martinovic
- Jennifer N. Dines
- John A. Phillips
- Justyna A. Karolak
- Jérémie Mortreux
- Kathleen A. Leppig
- Katie Golden-Grant
- Katrina Dipple
- Kerstjens-Frederikse
- Kimura
- Klar
- Klopocki
- Langenstroer
- Langston
- Lara Chalabreysse
- Laurent Pasquier
- Lek
- Lertsburapa
- Li
- Li
- Linda Pons
- Liu
- Louise Devisme
- Lupski
- Lüdtke
- Lüdtke
- MacMahon
- Madeleine Joubert
- Maria Orsaria
- Marie Denis-Musquer
- Marie Vincent
- Mark H. Lipson
- Martin A. Weber
- Massimiliano Don
- McDonald-McGinn
- McKenna
- McPherson
- Megan Dishop
- Menke
- Milunsky
- Moerman
- Morrisey
- Nicolas Chassaing
- Nicolas Joram
- Nimmakayalu
- Nogee
- Oda
- Olivier Pichon
- Ou
- Paweł Stankiewicz
- Potocki
- Prince
- Przemyslaw Szafranski
- Qian Liu
- Quaggin
- Rohmann
- Rutledge
- Sakiyama
- Sambrook
- Schmitt
- Schönewolf-Greulich
- Sekine
- Seymen
- Shalini N. Jhangiani
- Short
- Sifrim
- Stuhrmann
- Stéphane Bézieau
- Suhrie
- Szafranski
- Szafranski
- Szafranski
- Szafranski
- Sébastien Küry
- Takahashi
- Thomas Besnard
- Tina M. Bartell
- Tiphaine Bihouée
- Tomasz Gambin
- Vanlerberghe
- Vergaelen
- Véronique Secq
- Wendy K. Chung
- Wu
- Yang
- Zeynep H. Coban Akdemir
- Zeynep Tümer
- Zhang
- Zhu
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study