E-LIB Suche - Ergebnisse für: Bayrak‐Toydemir, Pinar

1

Novel molecular mechanism in Malan syndrome uncovered throu..:

Zhao, Jian ; Longo, Nicola ; Lewis, Robert G....
American Journal of Medical Genetics Part A. 194 (2024) 5 - p. , 2024

2

Comprehensive variant calling from whole‐genome sequencing ..:

Nicholas, Thomas J. ; Al‐Sweel, Najla ; Farrell, Andrew...
Molecular Genetics & Genomic Medicine. 10 (2022) 4 - p. , 2022

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

3

Homozygous GDF2 nonsense mutations result in a loss of circ..:

Hodgson, Joshua ; Ruiz‐Llorente, Lidia ; McDonald, Jamie...
Molecular Genetics & Genomic Medicine. 9 (2021) 12 - p. , 2021

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

4

Targeted gene panel sequencing for the rapid diagnosis of a..:

Brunelli, Luca ; Jenkins, Sabrina M. ; Gudgeon, James M....
Molecular Genetics & Genomic Medicine. 7 (2019) 7 - p. , 2019

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

5

Expanding the genetic and clinical spectrum of the NONO‐ass..:

Carlston, Colleen M. ; Bleyl, Steven B. ; Andrews, Ashley...
American Journal of Medical Genetics Part A. 179 (2019) 5 - p. 792-796 , 2019

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

6

Tissue‐specific mosaicism in hereditary hemorrhagic telangi..:

McDonald, Jamie ; Wooderchak‐Donahue, Whitney L. ; Henderson, Katharine...
American Journal of Medical Genetics Part A. 176 (2018) 7 - p. 1618-1621 , 2018

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

7

The spectrum of DNMT3A variants in Tatton–Brown–Rahman synd..:

Shen, Wei ; Heeley, Jennifer M. ; Carlston, Colleen M....
American Journal of Medical Genetics Part A. 173 (2017) 11 - p. 3022-3028 , 2017

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

8

The Fourth International Symposium on Genetic Disorders of ..:

Stevenson, David A. ; Schill, Lisa ; Schoyer, Lisa...
American Journal of Medical Genetics Part A. 170 (2016) 8 - p. 1959-1966 , 2016

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

9

RASA1 somatic mutation and variable expressivity in capilla..:

Macmurdo, Colleen F. ; Wooderchak‐Donahue, Whitney ; Bayrak‐Toydemir, Pinar...
American Journal of Medical Genetics Part A. 170 (2016) 6 - p. 1450-1454 , 2016

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

10

Clinical intrafamilial variability in lethal familial neona..:

Lozano, Reymundo ; Herman, Kristin ; Rothfuss, Melanie...
American Journal of Medical Genetics Part A. 170 (2016) 12 - p. 3207-3214 , 2016

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

11

Clinical utility of a next generation sequencing panel assa..:

Wooderchak‐Donahue, Whitney ; VanSant‐Webb, Chad ; Tvrdik, Tatiana...
American Journal of Medical Genetics Part A. 167 (2015) 8 - p. 1747-1757 , 2015

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

12

X chromosome exome sequencing reveals a novel ALG13 mutatio..:

Bissar‐Tadmouri, Nesrine ; Donahue, Whithey L. ; Al‐Gazali, Lihadh...
American Journal of Medical Genetics Part A. 164 (2013) 1 - p. 164-169 , 2013

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

13

Candidate locus analysis for PHACE syndrome:

Mitchell, Sheri ; Siegel, Dawn H. ; Shieh, Joseph T.C....
American Journal of Medical Genetics Part A. 158A (2012) 6 - p. 1363-1367 , 2012

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

14

Hemangioma Is Associated with Atopic Disease:

Grimmer, J. Fredrik ; Williams, Marc S. ; Pimentel, Richard...
Otolaryngology–Head and Neck Surgery. 146 (2011) 2 - p. 206-209 , 2011

Link: https://doi.org/10.1177/..

15

A novel X‐linked multiple congenital anomaly syndrome assoc..:

Furtado, Larissa V. ; Bayrak‐Toydemir, Pinar ; Hulinsky, Becki...
American Journal of Medical Genetics Part A. 152A (2010) 11 - p. 2838-2844 , 2010

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