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1 . Academic Journal
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
저자
by
Birnbaum, Rivka
;
Ezer, Shlomit
;
Lotan, Nava Shaul
;
Eilat, Avital
;
Sternlicht, Keren
, et al.
소스
Journal of Medical Genetics; Mar2024, Vol. 61 Issue 3, p289-293, 5p
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7 . Periodical
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3in Ashkenazi Jews
저자
by
Birnbaum, Rivka
;
Ezer, Shlomit
;
Lotan, Nava Shaul
;
Eilat, Avital
;
Sternlicht, Keren
, et al.
소스
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 3 p289-293, 5p
Full Text (BMJ Journals)
Web of Science
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7 . Academic Journal
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.
저자
by
Hirsch, Yoel
;
Chung, Wendy K.
;
Novoselov, Sergey
;
Weimer, Louis H.
;
Rossor, Alexander
, et al.
소스
International Journal of Molecular Sciences
. May2023, Vol. 24 Issue 10, p8897. 10p.
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7 . Academic Journal
Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population.
저자
by
Rabin, Rachel
;
Hirsch, Yoel
;
Chung, Wendy K.
;
Ekstein, Josef
;
Levy‐Lahad, Ephrat
, et al.
소스
American Journal of Medical Genetics. Part A; Oct2022, Vol. 188 Issue 10, p3110-3117, 8p
Web of Science
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7 . Academic Journal
Vici syndrome in Israel: Clinical and molecular insights.
저자
by
Chorin, Odelia
;
Hirsch, Yoel
;
Rock, Rachel
;
Sheelo, Liat Salzer
;
Goldberg, Yael
, et al.
소스
Frontiers in Genetics; 9/20/2022, Vol. 13, p1-8, 8p
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7 . Academic Journal
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
저자
by
Machado, Rajiv D.
;
Welch, Carrie L.
;
Haimel, Matthias
;
Bleda, Marta
;
Colglazier, Elizabeth
, et al.
소스
Journal of Medical Genetics; Sep2022, Vol. 59 Issue 9, p906-911, 6p
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7 . Academic Journal
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
저자
by
Thorpe, Ryan K.
;
Azaiez, Hela
;
Wu, Peina
;
Wang, Qiuju
;
Xu, Lei
, et al.
소스
Human Genetics
. Apr2022, Vol. 141 Issue 3/4, p853-863. 11p.
Web of Science
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7 . Academic Journal
Bi‐allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
저자
by
Daum, Hagit
;
Ganapathi, Mythily
;
Hirsch, Yoel
;
Griffin, Emily L.
;
LeDuc, Charles A.
, et al.
소스
American Journal of Medical Genetics. Part A; Jan2022, Vol. 188 Issue 1, p336-342, 7p
Web of Science
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7 . Academic Journal
Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss.
저자
by
Booth, Kevin T.
;
Hirsch, Yoel
;
Vardaro, Anna C.
;
Ekstein, Josef
;
Yefet, Devorah
, et al.
소스
Frontiers in Genetics; 10/18/2021, Vol. 12, p1-7, 7p
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7 . Academic Journal
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
저자
by
Zeevi, David A.
;
Chung, Wendy K.
;
Levi, Chaim
;
Scher, Sholem Y.
;
Bringer, Rachel
, et al.
소스
Molecular Genetics & Genomic Medicine
. Aug2021, Vol. 9 Issue 8, p1-12. 12p.
Open Access (Wiley)
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