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Hirsch, Yoel
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1

Biallelic Loss-of-Function Variants in BICD1 Are Associated..:

Hirsch, Yoel ; Chung, Wendy K. ; Novoselov, Sergey...
International Journal of Molecular Sciences.  24 (2023)  10 - p. 8897 , 2023
Link: https://doi.org/10.3390/..
 
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2

Expanding the phenotypic spectrum of COLEC10‐Related 3MC sy..:

Rabin, Rachel ; Hirsch, Yoel ; Chung, Wendy K....
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 3110-3117 , 2022
Link: https://doi.org/10.1002/..
 
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3

Vici syndrome in Israel: Clinical and molecular insights:

Chorin, Odelia ; Hirsch, Yoel ; Rock, Rachel...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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4

Multidimensional analysis and therapeutic development using..:

Kitamura, Rie Asada ; Maxwell, Kristina G. ; Ye, Wenjuan...
JCI Insight.  7 (2022)  18 - p. , 2022
Link: https://doi.org/10.1172/..
 
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5

eP206: Novel variant in ARSA associated with late infantile..:

Pappas, John ; Rabin, Rachel ; Mistry, Pramod..
Genetics in Medicine.  24 (2022)  3 - p. S127-S128 , 2022
Link: https://doi.org/10.1016/..
 
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6

eP220: Expanding the phenotypic spectrum of COLEC10-related..:

Rabin, Rachel ; Hirsch, Yoel ; Chung, Wendy...
Genetics in Medicine.  24 (2022)  3 - p. S137 , 2022
Link: https://doi.org/10.1016/..
 
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7

Biallelic variants of ATP13A3 cause dose-dependent childhoo..:

Machado, Rajiv D ; Welch, Carrie L ; Haimel, Matthias...
Journal of Medical Genetics.  59 (2021)  9 - p. 906-911 , 2021
Link: https://doi.org/10.1136/..
 
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8

The natural history of OTOF-related auditory neuropathy spe..:

Thorpe, Ryan K. ; Azaiez, Hela ; Wu, Peina...
Human Genetics.  , 2021
Link: https://doi.org/10.1007/..
 
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9

A synonymous variant in MYO15A enriched in the Ashkenazi Je..:

Hirsch, Yoel ; Tangshewinsirikul, Chayada ; Booth, Kevin T....
European Journal of Human Genetics.  29 (2021)  6 - p. 988-997 , 2021
Link: https://doi.org/10.1038/..
 
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10

Bi‐allelic PAGR1 variants are associated with microcephaly ..:

Daum, Hagit ; Ganapathi, Mythily ; Hirsch, Yoel...
American Journal of Medical Genetics Part A.  188 (2021)  1 - p. 336-342 , 2021
Link: https://doi.org/10.1002/..
 
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11

Severe epileptic encephalopathy associated with compound he..:

Rabin, Rachel ; Hirsch, Yoel ; Johansson, Martin M....
American Journal of Medical Genetics Part A.  185 (2021)  5 - p. 1589-1597 , 2021
Link: https://doi.org/10.1002/..
 
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12

Identification of Novel and Recurrent Variants in MYO15A in..:

Booth, Kevin T. ; Hirsch, Yoel ; Vardaro, Anna C....
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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13

Further Delineation of the Clinical and Pathologic Features..:

Helman, Guy ; Zerem, Ayelet ; Almad, Akshata...
Pediatric Neurology.  121 (2021)  - p. 11-19 , 2021
Link: https://doi.org/10.1016/..
 
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14

Recommendation of premarital genetic screening in the Syria..:

Zeevi, David A. ; Chung, Wendy K. ; Levi, Chaim...
Molecular Genetics & Genomic Medicine.  9 (2021)  8 - p. , 2021
Link: https://doi.org/10.1002/..
 
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15

A founder deletion in the TRPM1 gene associated with congen..:

Hirsch, Yoel ; Zeevi, David A. ; Lam, Byron L....
Human Genome Variation.  6 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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