Loading Filters
Showing 1–4 of 4 results
-
Correspondence | | Open
-
Research |
Impact of integrated translational research on clinical exome sequencing
- Eric W. Klee
- , Margot A. Cousin
- , Filippo Pinto e Vairo
- , Joel A. Morales-Rosado
- , Erica L. Macke
- , W. Garrett Jenkinson
- , Alejandro Ferrer
- , Laura E. Schultz-Rogers
- , Rory J. Olson
- , Gavin R. Oliver
- , Ashley N. Sigafoos
- , Tanya L. Schwab
- , Michael T. Zimmermann
- , Raul A. Urrutia
- , Charu Kaiwar
- , Aditi Gupta
- , Patrick R. Blackburn
- , Nicole J. Boczek
- , Carri A. Prochnow
- , Rebecca J. Lowy
- , Lindsay A. Mulvihill
- , Tammy M. McAllister
- , Stacy L. Aoudia
- , Teresa M. Kruisselbrink
- , Lauren B. Gunderson
- , Jennifer L. Kemppainen
- , Laura J. Fisher
- , Jessica M. Tarnowski
- , Megan M. Hager
- , Sarah A. Kroc
- , Nicole L. Bertsch
- , Katherine E. Agre
- , Jessica L. Jackson
- , Sarah K. Macklin-Mantia
- , Marine I. Murphree
- , Laura M. Rust
- , Jolene M. Summer Bolster
- , Scott A. Beck
- , Paldeep S. Atwal
- , Marissa S. Ellingson
- , Sarah S. Barnett
- , Kristen J. Rasmussen
- , Carrie A. Lahner
- , Zhiyv Niu
- , Linda Hasadsri
- , Matthew J. Ferber
- , Cherisse A. Marcou
- , Karl J. Clark
- , Pavel N. Pichurin
- , David R. Deyle
- , Eva Morava-Kozicz
- , Ralitza H. Gavrilova
- , Radhika Dhamija
- , Klaas J. Wierenga
- , Brendan C. Lanpher
- , Dusica Babovic-Vuksanovic
- , Gianrico Farrugia
- , Lisa A. Schimmenti
- , A. Keith Stewart
- & Konstantinos N. Lazaridis
-
Research |
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
- Theodore G. Drivas
- , Dong Li
- , Divya Nair
- , Joseph T. Alaimo
- , Mariëlle Alders
- , Janine Altmüller
- , Tahsin Stefan Barakat
- , E. Martina Bebin
- , Nicole L. Bertsch
- , Patrick R. Blackburn
- , Alyssa Blesson
- , Arjan M. Bouman
- , Knut Brockmann
- , Perrine Brunelle
- , Margit Burmeister
- , Gregory M. Cooper
- , Jonas Denecke
- , Anne Dieux-Coëslier
- , Holly Dubbs
- , Alejandro Ferrer
- , Danna Gal
- , Lauren E. Bartik
- , Lauren B. Gunderson
- , Linda Hasadsri
- , Mahim Jain
- , Catherine Karimov
- , Beth Keena
- , Eric W. Klee
- , Katja Kloth
- , Baiba Lace
- , Marina Macchiaiolo
- , Julien L. Marcadier
- , Jeff M. Milunsky
- , Melanie P. Napier
- , Xilma R. Ortiz-Gonzalez
- , Pavel N. Pichurin
- , Jason Pinner
- , Zoe Powis
- , Chitra Prasad
- , Francesca Clementina Radio
- , Kristen J. Rasmussen
- , Deborah L. Renaud
- , Eric T. Rush
- , Carol Saunders
- , Duygu Selcen
- , Ann R. Seman
- , Deepali N. Shinde
- , Erica D. Smith
- , Thomas Smol
- , Lot Snijders Blok
- , Joan M. Stoler
- , Sha Tang
- , Marco Tartaglia
- , Michelle L. Thompson
- , Jiddeke M. van de Kamp
- , Jingmin Wang
- , Dagmar Weise
- , Karin Weiss
- , Rixa Woitschach
- , Bernd Wollnik
- , Huifang Yan
- , Elaine H. Zackai
- , Giuseppe Zampino
- , Philippe Campeau
- & Elizabeth Bhoj
-
Research |
Variants in DOCK3 cause developmental delay and hypotonia
- Kimberly Wiltrout
- , Alejandro Ferrer
- , Ingrid van de Laar
- , Kazuhiko Namekata
- , Takayuki Harada
- , Eric W. Klee
- , Michael T. Zimmerman
- , Margot A. Cousin
- , Jennifer L. Kempainen
- , Dusica Babovic-Vuksanovic
- , Marjon A. van Slegtenhorst
- , Coranne D. Aarts-Tesselaar
- , Rhonda E. Schnur
- , Marisa Andrews
- & Marwan Shinawi