E-LIB Suche - Ergebnisse für: Zlotogora, Joël

1

Autosomal dominant inheritance with sex‐limited infertility:

Daum, Hagit ; Zlotogora, Joël
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1672-1674 , 2023

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

2

Explanations for the discrepancy between variant frequency ..:

Zlotogora, Joël ; Harel, Tamar ; Meiner, Vardiella
European Journal of Medical Genetics. 66 (2023) 6 - p. 104765 , 2023

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

3

Biallelic variants in PAX3 cause Klein syndrome:

Salah, Somaya ; Meiner, Vardiella ; Abumayaleh, Abdelrazzaq...
Clinical Genetics. 102 (2022) 3 - p. 223-227 , 2022

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

4

Carrier screening for Krabbe disease in an isolated inbred ..:

Ezer, Shlomit ; Zuckerman, Shachar ; Segel, Reeval.
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2555-2559 , 2022

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

5

Chapter 8 Using Community Genetics for Healthy Consanguinit:

, In: Cousin Marriages,

Zlotogora, Joël - p. 175-184 , 2022

Link: https://doi.org/10.1515/..

6

Fanconi Anemia Gene Variants in Patients with Gonadal Dysfu..:

Daum, Hagit ; Zlotogora, Joël
Reproductive Sciences. 29 (2021) 5 - p. 1408-1413 , 2021

Link: https://doi.org/10.1007/..

7

The landscape of autosomal recessive variants in an isolate..:

Khayat, Morad ; Danial‐Farran, Nada ; Chervinsky, Elena...
Clinical Genetics. 100 (2021) 5 - p. 522-528 , 2021

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

8

Forty‐seven pathogenic variants causing autosomal recessive..:

Zlotogora, Joël
Clinical Genetics. 99 (2021) 6 - p. 818-822 , 2021

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

9

Smith–Lemli–Opitz syndrome: what is the actual risk for cou..:

Daum, Hagit ; Meiner, Vardiella ; Michaelson-Cohen, Rachel...
European Journal of Human Genetics. 28 (2020) 7 - p. 938-942 , 2020

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

10

The Israeli national population program of genetic carrier ..:

Zlotogora, Joël
Israel Journal of Health Policy Research. 8 (2019) 1 - p. , 2019

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

11

Autosomal recessive diseases among the Israeli Arabs:

Zlotogora, Joël
Human Genetics. 138 (2019) 10 - p. 1117-1122 , 2019

Link: https://doi.org/10.1007/..

12

International perspectives on the implementation of reprodu..:

Delatycki, Martin B. ; Alkuraya, Fowzan ; Archibald, Alison...
Prenatal Diagnosis. 40 (2019) 3 - p. 301-310 , 2019

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

13

Ashkenazi Jewish genomic variants: integrating data from th..:

Zlotogora, Joël ; Patrinos, George P. ; Meiner, Vardiella
Genetics in Medicine. 20 (2018) 8 - p. 867-871 , 2018

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

14

The Israeli National Genetic database: a 10-year experience:

Zlotogora, Joël ; Patrinos, George P.
Human Genomics. 11 (2017) 1 - p. , 2017

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

15

Ashkenazi carrier screening for reproductive planning: is t..:

Zlotogora, Joël ; Meiner, Vardiella
Genetics in Medicine. 18 (2016) 5 - p. 529 , 2016

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