E-LIB Suche - Ergebnisse für: Gradstein, Libe

1

Best Disease: Global Mutations Review, Genotype–Phenotype C..:

Beryozkin, Avigail ; Sher, Ifat ; Ehrenberg, Miriam...
Investigative Opthalmology & Visual Science. 65 (2024) 2 - p. 39 , 2024

Link: https://doi.org/10.1167/..

2

De‐novo "germline second hit" loss‐of‐heterozygosity RBP3 d..:

Gombosh, Maya ; Yogev, Yuval ; Hadar, Noam...
Clinical Genetics. 104 (2023) 5 - p. 571-576 , 2023

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

3

IHH enhancer variant within neighboring NHEJ1 intron causes..:

Wormser, Ohad ; Perez, Yonatan ; Dolgin, Vadim...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

4

Partial penetrance and phenotypic variability of aplasia of..:

Freund, Ofek ; Elsana, Baker ; Agam, Nadav...
American Journal of Medical Genetics Part A. 191 (2023) 11 - p. 2768-2774 , 2023

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

5

The Phenotypic and Mutational Spectrum of the FHONDA Syndro..:

Kruijt, Charlotte C. ; Gradstein, Libe ; Bergen, Arthur A....
Investigative Opthalmology & Visual Science. 63 (2022) 1 - p. 19 , 2022

Link: https://doi.org/10.1167/..

6

Ocular manifestations among patients with congenital insens..:

Elsana, Baker ; Imtirat, Ahed ; Yagev, Ronit...
American Journal of Medical Genetics Part A. 188 (2022) 12 - p. 3463-3468 , 2022

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

7

A syndrome of severe intellectual disability, hypotonia, fa..:

Halperin, Daniel ; Agam, Nadav ; Hallak, Maher...
Clinical Genetics. 102 (2022) 2 - p. 123-129 , 2022

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

8

PSMC1 variant causes a novel neurological syndrome:

Aharoni, Sarit ; Proskorovski‐Ohayon, Regina ; Krishnan, Ramesh Kumar...
Clinical Genetics. 102 (2022) 4 - p. 324-332 , 2022

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

9

Phenotypic variability and mutation hotspot in COX15‐relate..:

Halperin, Daniel ; Drabkin, Max ; Wormser, Ohad...
American Journal of Medical Genetics Part A. 182 (2020) 6 - p. 1506-1512 , 2020

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

10

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pa..:

Nadeem, Raheela ; Kabir, Firoz ; Li, Jiali...
Human Genome Variation. 7 (2020) 1 - p. , 2020

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

11

Pituitary stalk interruption syndrome broadens the clinical..:

David, Odeya ; Eskin‐Schwartz, Marina ; Ling, Galina...
Clinical Genetics. 98 (2020) 3 - p. 303-307 , 2020

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

12

SCAPER localizes to primary cilia and its mutation affects ..:

Wormser, Ohad ; Gradstein, Libe ; Yogev, Yuval...
European Journal of Human Genetics. 27 (2019) 6 - p. 928-940 , 2019

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

13

A nationwide genetic analysis of inherited retinal diseases..:

Sharon, Dror ; Ben‐Yosef, Tamar ; Goldenberg‐Cohen, Nitza...
Human Mutation. 41 (2019) 1 - p. 140-149 , 2019

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

14

Carrier frequency analysis of mutations causing autosomal-r..:

Hanany, Mor ; Allon, Gilad ; Kimchi, Adva...
European Journal of Human Genetics. 26 (2018) 8 - p. 1159-1166 , 2018

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

15

Combined CNV, haplotyping and whole exome sequencing enable..:

Wormser, Ohad ; Gradstein, Libe ; Kadar, Einat...
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2695-2703 , 2018

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