E-LIB Suche - Ergebnisse für: Vasudevan, Pradeep C

1

Variants in GNAI1 cause a syndrome associated with variable..:

Muir, Alison M. ; Gardner, Jennifer F. ; van Jaarsveld, Richard H....
Genetics in Medicine. 23 (2021) 5 - p. 881-887 , 2021

Link: https://doi.org/10.1038/..

2

Childhood-onset generalized epilepsy in Bainbridge-Ropers s..:

Myers, Kenneth A. ; White, Susan M. ; Mohammed, Shehla...
Epilepsy Research. 140 (2018) - p. 166-170 , 2018

Link: https://doi.org/10.1016/..

3

Response:

Vasudevan, Pradeep C ; Suri, Mohnish
Clinical Medicine. 18 (2018) 2 - p. 192 , 2018

Link: https://doi.org/10.7861/..

4

Corrigendum to "Childhood-onset generalized epilepsy in Bai..:

Myers, Kenneth A. ; White, Susan M. ; Mohammed, Shehla...
Epilepsy Research. 147 (2018) - p. 121 , 2018

Link: https://doi.org/10.1016/..

5

Renal anomalies and lymphedema distichiasis syndrome. A rar..:

Jones, Gabriela E. ; Richmond, Anna K. ; Navti, Osric...
American Journal of Medical Genetics Part A. 173 (2017) 8 - p. 2251-2256 , 2017

Link: https://doi.org/10.1002/..

6

De novo mutations in HNRNPU result in a neurodevelopmental ..:

Yates, T. Michael ; Vasudevan, Pradeep C. ; Chandler, Kate E....
American Journal of Medical Genetics Part A. 173 (2017) 11 - p. 3003-3012 , 2017

Link: https://doi.org/10.1002/..

7

Detection of structural mosaicism from targeted and whole-g..:

King, Daniel A. ; Sifrim, Alejandro ; Fitzgerald, Tomas W....
Genome Research. 27 (2017) 10 - p. 1704-1714 , 2017

Link: https://doi.org/10.1101/..

8

Microform holoprosencephaly with bilateral congenital elbow..:

Jones, Gabriela E. ; Robertson, Lisa ; Maniyar, Amit...
American Journal of Medical Genetics Part A. 170 (2016) 3 - p. 754-759 , 2016

Link: https://doi.org/10.1002/..

9

De novo, heterozygous, loss‐of‐function mutations in SYNGAP..:

Parker, Michael J. ; Fryer, Alan E. ; Shears, Deborah J....
American Journal of Medical Genetics Part A. 167 (2015) 10 - p. 2231-2237 , 2015

Link: https://doi.org/10.1002/..

10

Mosaic structural variation in children with developmental ..:

King, Daniel A. ; Jones, Wendy D. ; Crow, Yanick J....
Human Molecular Genetics. 24 (2015) 10 - p. 2733-2745 , 2015

Link: https://doi.org/10.1093/..

11

Should we offer prenatal testing for 17q12 microdeletion sy..:

Jones, Gabriela E. ; Mousa, Hatem A. ; Rowley, Helen..
Prenatal Diagnosis. 35 (2015) 13 - p. 1336-1341 , 2015

Link: https://doi.org/10.1002/..

12

Status epilepsy in CCM with KRIT1 gene change:

Craft, Emily V. ; Vasudevan, Pradeep C.
European Journal of Paediatric Neurology. 18 (2014) 2 - p. 241-242 , 2014

Link: https://doi.org/10.1016/..

13

The OEIS complex: two case reports that illustrate the spec..:

Vasudevan, Pradeep C. ; Cohen, Marta C. ; Whitby, Elspeth H...
Prenatal Diagnosis. 26 (2006) 3 - p. 267-272 , 2006

Link: https://doi.org/10.1002/..

14

A case of Fryns syndrome without diaphragmatic hernia and r..:

Vasudevan, Pradeep C. ; Stewart, Helen
Clinical Dysmorphology. 13 (2004) 3 - p. 179-182 , 2004

Link: https://doi.org/10.1097/..

15

Variants in GNAI1 Cause a Syndrome Associated with Variable..:

Muir, Alison M ; Gardner, Jennifer F ; van Jaarsveld, Richard H...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107131/. , 2021

Link: http://www.ncbi.nlm.nih...