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

1

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760965/. , 2024

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

2

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

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10336078/. , 2023

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

3

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

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
https://boris.unibe.ch/184706/. , 2023

Link: https://boris.unibe.ch/1..

4

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

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
https://discovery.ucl.ac.uk/id/eprint/10173395/1/Efthymiou_s41467-023-39645-5.pdf. , 2023

Link: https://discovery.ucl.ac..

5

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

Leppig, Kathleen A ; Rahm, Alanna Kulchak ; Appelbaum, Paul...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10074557/. , 2022

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

6

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

Nair, Divya ; Li, Dong ; Erdogan, Hannah...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289858/. , 2022

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

7

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

Nair, Divya ; Li, Dong ; Erdogan, Hannah...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756546/. , 2021

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

8

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

Sheppard, Sarah E ; Campbell, Ian M ; Harr, Margaret H...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8631250/. , 2021

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

9

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

Sheppard, Sarah E ; Campbell, Ian M ; Harr, Margaret H...
qt0xp4224d. , 2021

Link: https://escholarship.org..

10

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

Wiesner, Georgia L ; Kulchak Rahm, Alanna ; Appelbaum, Paul...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7354592/. , 2020

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

11

Recurrent Arginine Substitutions in the ACTG2 Gene are the ..:

Assia Batzir, Nurit ; Kishor Bhagwat, Pranjali ; Larson, Austin...
https://vbn.aau.dk/da/publications/ac70c72e-6ac9-406c-be37-06e0406e78f8. , 2020

Link: https://vbn.aau.dk/da/pu..

12

Recurrent Arginine Substitutions in the ACTG2 Gene are the ..:

Batzir, Nurit Assia ; Bhagwat, Pranjali K ; Larson, Austin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7720429/. , 2019

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

13

Autosomal Recessive Noonan Syndrome Associated with Biallel..:

Johnston, Jennifer J ; van der Smagt, Jasper J ; Rosenfeld, Jill A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105555/. , 2018

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

14

Mandibulofacial Dysostosis with Microcephaly: Mutation and ..:

Huang, Lijia ; Vanstone, Megan R ; Hartley, Taila...
qt7bf8s425. , 2016

Link: https://escholarship.org..

15

Mandibulofacial Dysostosis with Microcephaly: Mutation and ..:

Huang, Lijia ; Vanstone, Megan R ; Hartley, Taila...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512564/. , 2015

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