E-LIB Suche - Ergebnisse für: Harr, Margaret H.

1

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
Journal of Clinical Investigation. 134 (2024) 1 - p. , 2024

Link: https://doi.org/10.1172/..

2

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
Nature Communications. 14 (2023) 1 - p. , 2023

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

3

The reckoning: The return of genomic results to 1444 partic..:

Leppig, Kathleen A. ; Kulchak Rahm, Alanna ; Appelbaum, Paul...
Genetics in Medicine. 24 (2022) 5 - p. 1130-1138 , 2022

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

4

Discovery of a neuromuscular syndrome caused by biallelic v..:

Nair, Divya ; Li, Dong ; Erdogan, Hannah...
Human Genetics and Genomics Advances. 3 (2022) 4 - p. 100122 , 2022

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

5

Outcomes of Returning Medically Actionable Genomic Results ..:

Blumling, Amy A. ; Prows, Cynthia A. ; Harr, Margaret H....
Journal of Personalized Medicine. 12 (2022) 11 - p. 1910 , 2022

Link: https://doi.org/10.3390/..

6

Discovery of a neuromuscular syndrome caused by biallelic v..:

Nair, Divya ; Li, Dong ; Erdogan, Hannah...
Human Genetics and Genomics Advances. 2 (2021) 2 - p. 100024 , 2021

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

7

Expanding the genotypic and phenotypic spectrum in a divers..:

Sheppard, Sarah E. ; Campbell, Ian M. ; Harr, Margaret H....
American Journal of Medical Genetics Part A. 185 (2021) 6 - p. 1649-1665 , 2021

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

8

Returning Results in the Genomic Era: Initial Experiences o..:

Wiesner, Georgia L. ; Kulchak Rahm, Alanna ; Appelbaum, Paul...
Journal of Personalized Medicine. 10 (2020) 2 - p. 30 , 2020

Link: https://doi.org/10.3390/..

9

Recurrent arginine substitutions in theACTG2gene are the pr..:

Assia Batzir, Nurit ; Kishor Bhagwat, Pranjali ; Larson, Austin...
Human Mutation. 41 (2019) 3 - p. 641-654 , 2019

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

10

Autosomal recessive Noonan syndrome associated with biallel..:

Johnston, Jennifer J. ; van der Smagt, Jasper J. ; Rosenfeld, Jill A....
Genetics in Medicine. 20 (2018) 10 - p. 1175-1185 , 2018

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

11

CMIP haploinsufficiency in two patients with autism spectru..:

Luo, Minjie ; Fan, Jinbo ; Wenger, Tara L....
American Journal of Medical Genetics Part A. 173 (2017) 8 - p. 2101-2107 , 2017

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

12

Expanding the phenotypic spectrum of TP63‐related disorders..:

Wenger, Tara ; Li, Dong ; Harr, Margaret H....
American Journal of Medical Genetics Part A. 176 (2017) 1 - p. 75-81 , 2017

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

13

Impairment of different protein domains causes variable cli..:

Bedeschi, Maria Francesca ; Marangi, Giuseppe ; Calvello, Maria Rosaria...
European Journal of Medical Genetics. 60 (2017) 11 - p. 565-571 , 2017

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

14

Expanding the SPECC1L mutation phenotypic spectrum to inclu..:

Bhoj, Elizabeth J. ; Li, Dong ; Harr, Margaret H....
American Journal of Medical Genetics Part A. 167 (2015) 11 - p. 2497-2502 , 2015

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

15

Mandibulofacial Dysostosis with Microcephaly: Mutation and ..:

Huang, Lijia ; Vanstone, Megan R. ; Hartley, Taila...
Human Mutation. 37 (2015) 2 - p. 148-154 , 2015

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