E-LIB Suche - Ergebnisse für: Lynch, Sally A.

1

P588: De novo and inherited variants in DDX39B cause a nove..:

Booth, Kevin ; Jangam, Sharayu ; Man Chun Chui, Martin...
Genetics in Medicine Open. 2 (2024) - p. 101494 , 2024

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

2

POU3F3‐related disorder: Defining the phenotype and expandi..:

Rossi, Alessandra ; Blok, Lot Snijders ; Neuser, Sonja...
Clinical Genetics. 104 (2023) 2 - p. 186-197 , 2023

Link: https://doi.org/10.1111/..

3

Germline pathogenic variants in HNRNPU are associated with ..:

Lee, Sunwoo ; Ochoa, Eguzkine ; Badura-Stronka, Magdalena...
European Journal of Human Genetics. 31 (2023) 9 - p. 1040-1047 , 2023

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

4

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A....
Genetics in Medicine. 25 (2023) 11 - p. 100962 , 2023

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

5

Börjeson–Forssman–Lehmann syndrome: delineating the clinica..:

Jain, Vani ; Foo, Seow Hoong ; Chooi, Stephen...
European Journal of Human Genetics. 31 (2023) 12 - p. 1421-1429 , 2023

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

6

eP410: De novo missense variants in DDX39B cause a novel sy..:

Treat, Kayla ; Jangam, Sharayu ; Yamamoto, Shinya...
Genetics in Medicine. 24 (2022) 3 - p. S257-S258 , 2022

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

7

Germline homozygous missense DEPDC5 variants cause severe r..:

Ververi, Athina ; Zagaglia, Sara ; Menzies, Lara...
Human Molecular Genetics. 32 (2022) 4 - p. 580-594 , 2022

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

8

Response to treatment and outcomes of infantile spasms in D..:

Harvey, Susan ; Allen, Nicholas M. ; King, Mary D....
Developmental Medicine & Child Neurology. 64 (2022) 6 - p. 780-788 , 2022

Link: https://doi.org/10.1111/..

9

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A....
Genetics in Medicine. 24 (2022) 10 - p. 2051-2064 , 2022

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

10

Derivation of four iPSC lines from a male ASD patient carry..:

Ding, Yicheng ; O'Brien, Aisling ; Marcó de la Cruz, Berta...
Stem Cell Research. 53 (2021) - p. 102254 , 2021

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

11

Derivation of iPSC lines from two patients with autism spec..:

Ding, Yicheng ; O'Brien, Aisling ; de la Cruz, Berta Marcó...
Stem Cell Research. 52 (2021) - p. 102222 , 2021

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

12

Non-coding region variants upstream of MEF2C cause severe d..:

Wright, Caroline F. ; Quaife, Nicholas M. ; Ramos-Hernández, Laura...
The American Journal of Human Genetics. 108 (2021) 6 - p. 1083-1094 , 2021

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

13

NRXN1α+/- is associated with increased excitability in ASD ..:

Avazzadeh, Sahar ; Quinlan, Leo R. ; Reilly, Jamie...
BMC Neuroscience. 22 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

14

Clinical findings of 21 previously unreported probands with..:

Durkin, Anna ; Albaba, Shadi ; Fry, Andrew E....
American Journal of Medical Genetics Part A. 182 (2020) 7 - p. 1637-1654 , 2020

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

15

Derivation of familial iPSC lines from three ASD patients c..:

Ding, Yicheng ; Marcó de la Cruz, Berta ; Xia, Yawen...
Stem Cell Research. 41 (2019) - p. 101653 , 2019

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