E-LIB Suche - Ergebnisse für: Ben‐Shachar, Shay

1

Large scale population screening for Duchenne muscular dyst..:

Cohen, Gal ; Shtorch‐Asor, Atalia ; Ben‐Shachar, Shay...
Prenatal Diagnosis. 42 (2022) 9 - p. 1162-1172 , 2022

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

2

Monogenic Causes of Apparently Idiopathic Perinatal Intracr..:

Hausman‐Kedem, Moran ; Malinger, Gustavo ; Modai, Shira...
Annals of Neurology. 89 (2021) 4 - p. 813-822 , 2021

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

3

First International Conference on RASopathies and Neurofibr..:

Rauen, Katherine A. ; Alsaegh, Abeer ; Ben‐Shachar, Shay...
American Journal of Medical Genetics Part A. 179 (2019) 6 - p. 1091-1097 , 2019

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

4

Rare familial TSC2 gene mutation associated with atypical p..:

Fox, Jonah ; Ben‐Shachar, Shay ; Uliel, Shimrit...
American Journal of Medical Genetics Part A. 173 (2017) 3 - p. 744-748 , 2017

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

5

Cranial irradiation in childhood mimicking neurofibromatosi..:

Bokstein, Felix ; Dubov, Tom ; Toledano‐Alhadef, Hagit...
American Journal of Medical Genetics Part A. 173 (2017) 6 - p. 1635-1639 , 2017

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

6

The effect of parental age on the presence of de novo mutat..:

Dubov, Tom ; Toledano‐Alhadef, Hagit ; Bokstein, Felix..
Molecular Genetics & Genomic Medicine. 4 (2016) 4 - p. 480-486 , 2016

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

7

High Incidence of Noonan Syndrome Features Including Short ..:

Rojnueangnit, Kitiwan ; Xie, Jing ; Gomes, Alicia...
Human Mutation. 36 (2015) 11 - p. 1052-1063 , 2015

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

8

Microscopic chromosome Xp distal deletions – a challenging ..:

Sukenik‐Halevy, Rivka ; Reches, Adi ; Bar‐Shira, Anat...
Prenatal Diagnosis. 34 (2014) 6 - p. 592-597 , 2014

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

9

Specific Neurological Phenotypes in Autism Spectrum Disorde..:

Ben‐Itzchak, Esther ; Ben‐Shachar, Shay ; Zachor, Ditza A.
Autism Research. 6 (2013) 6 - p. 596-604 , 2013

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

10

Undetected sex chromosome aneuploidy by chromosomal microar..:

Markus‐Bustani, Keren ; Yaron, Yuval ; Goldstein, Myriam..
Prenatal Diagnosis. 32 (2012) 11 - p. 1117-1118 , 2012

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

11

Genome‐wide array‐based copy number profiling in human plac..:

Harris, R. Alan ; Ferrari, Francesca ; Ben‐Shachar, Shay...
Prenatal Diagnosis. 31 (2011) 10 - p. 932-944 , 2011

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

12

Coexistence of an unbalanced chromosomal rearrangement and ..:

Ben‐Shachar, Shay ; Bidwa, Bhattacharjee M. ; Potocki, Lorraine.
American Journal of Medical Genetics Part A. 149A (2009) 3 - p. 515-518 , 2009

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

13

Author Correction: Variants in SART3 cause a spliceosomopat..:

Ayers, Katie L. ; Eggers, Stefanie ; Rollo, Ben N....
Nature Communications. 14 (2023) 1 - p. , 2023

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

14

Carrier screening program for BRCA1/BRCA2 pathogenic varian..:

Greenberg, Rotem ; Aharonov-Majar, Efrat ; Isakov, Ofer...
Genetics in Medicine Open. 1 (2023) 1 - p. 100824 , 2023

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

15

Early Infiltration of Innate Immune Cells to the Liver Depl..:

Goldman, Omer ; Adler, Lital N. ; Hajaj, Emma...
Cancer Discovery. 13 (2023) 7 - p. 1616-1635 , 2023

Link: https://doi.org/10.1158/..