Opening book details…
About this book
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia by Oguz Kanca & Jonathan C. Andrews & Pei-Tseng Lee & Chirag Patel & Stephen R. Braddock & Anne M. Slavotinek & Julie S. Cohen & Cynthia S. Gubbels & Kimberly A. Aldinger & Judy Williams & Maanasa Indaram & Ali Fatemi & Timothy W. Yu & Pankaj B. Agrawal &... is a book available to read on EtoBox.
- Author
- Oguz Kanca & Jonathan C. Andrews & Pei-Tseng Lee & Chirag Patel & Stephen R. Braddock & Anne M. Slavotinek & Julie S. Cohen & Cynthia S. Gubbels & Kimberly A. Aldinger & Judy Williams & Maanasa Indaram & Ali Fatemi & Timothy W. Yu & Pankaj B. Agrawal &...
- Publisher
- ElsevierCompany.
- Published
- 2019
- Language
- EN
More by Oguz Kanca & Jonathan C. Andrews & Pei-Tseng Lee & Chirag Patel & Stephen R. Braddock & Anne M. Slavotinek & Julie S. Cohen & Cynthia S. Gubbels & Kimberly A. Aldinger & Judy Williams & Maanasa Indaram & Ali Fatemi & Timothy W. Yu & Pankaj B. Agrawal &...
Similar books
- De Novo Variants in FRYL Are Associated with Developmental Delay, Intellectual Disability, and Dysmorphic Features — Xueyang Pan & Alice M. Tao & Shenzhao Lu & Mengqi Ma & Shabab B. Hannan & Rachel Slaugh & Sarah Drewes Williams & Lauren O'Grady & Oguz Kanca & Richard Person & Melissa T. Carter & Konrad Platzer & Franziska Schnabel & Rami Abou Jamra & Amy E. Roberts... (2024)
- De Novo Variants in FRMD5 Are Associated with Developmental Delay, Intellectual Disability, Ataxia, and Abnormalities of Eye Movement — Shenzhao Lu & Mengqi Ma & Xiao Mao & Carlos A. Bacino & Joseph Jankovic & V. Reid Sutton & James A. Bartley & Xueying Wang & Jill A. Rosenfeld & Ana Beleza-Meireles & Jaynee Chauhan & Xueyang Pan & Megan Li & Pengfei Liu & Katrina Prescott & Sam Amin &... (2022)
- De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism — Ash Zawerton & Baojin Yao & J. Paige Yeager & Tommaso Pippucci & Abdul Haseeb & Joshua D. Smith & Lisa Wischmann & Susanne J. Kühl & John C.S. Dean & Daniela T. Pilz & Susan E. Holder & Deciphering Developmental Disorders Study & University of... (2019)
- Loss-of-function Variants in TIAM1 Are Associated with Developmental Delay, Intellectual Disability, and Seizures — Shenzhao Lu & Rebecca Hernan & Paul C. Marcogliese & Yan Huang & Tracy S. Gertler & Meltem Akcaboy & Shiyong Liu & Hyung-lok Chung & Xueyang Pan & Xiaoqin Sun & Melahat Melek Oguz & Ulkühan Oztoprak & Jeroen H.F. de Baaij & Jelena Ivanisevic & Erin... (2022)
- De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation — Dongxue Mao & Chloe M. Reuter & Maura R.Z. Ruzhnikov & Anita E. Beck & Emily G. Farrow & Lisa T. Emrick & Jill A. Rosenfeld & Katherine M. Mackenzie & Laurie Robak & Matthew T. Wheeler & Lindsay C. Burrage & Mahim Jain & Pengfei Liu & Daniel Calame &... (2020)
- De Novo and Bi-allelic Variants in AP1G1 Cause Neurodevelopmental Disorder with Developmental Delay, Intellectual Disability, and Epilepsy — Muhammad A. Usmani & Zubair M. Ahmed & Pamela Magini & Victor Murcia Pienkowski & Kristen J. Rasmussen & Rebecca Hernan & Faiza Rasheed & Mureed Hussain & Mohsin Shahzad & Brendan C. Lanpher & Zhiyv Niu & Foong-Yen Lim & Tommaso Pippucci & Rafal Ploski... (2021)