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Shohat, Mordechai
172  results:
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1

A de novo pathogenic variant in DHX30 gene in a fetus with ..:

Haratz, Karina Krajden ; Malinger, Gustavo ; Erlik, Uri...
Prenatal Diagnosis.  44 (2024)  3 - p. 357-359 , 2024
Link: https://doi.org/10.1002/..
 
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2

1063 Prenatal Exome in low-risk pregnancies and apparently ..:

Levy, Michal ; Lifshitz, Shira ; Goldenberg-Fumanov, Mirela...
American Journal of Obstetrics and Gynecology.  230 (2024)  1 - p. S558-S559 , 2024
Link: https://doi.org/10.1016/..
 
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3

Exome sequencing in every pregnancy? Results of trio exome ..:

Levy, Michal ; Lifshitz, Shira ; Goldenberg‐Fumanov, Mirela...
Prenatal Diagnosis.  , 2024
Link: https://doi.org/10.1002/..
 
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4

Exploring inheritance, and clinical penetrance of distal Xq..:

Levy, Michal ; Elron, Eyal ; Shohat, Mordechai...
Journal of Human Genetics.  69 (2024)  7 - p. 337-343 , 2024
Link: https://doi.org/10.1038/..
 
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5

Proximal 1q21 duplication: A syndrome or a susceptibility l..:

Levy, Michal ; Shohat, Mordechai ; Kahana, Sarit...
American Journal of Medical Genetics Part A.  191 (2023)  10 - p. 2551-2557 , 2023
Link: https://doi.org/10.1002/..
 
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6

Whole exome germline sequencing in early‐onset prostate can..:

Siegelmann‐Danieli, Nava ; Neiman, Victoria ; Bareket‐Samish, Avital...
The Prostate.  84 (2023)  1 - p. 39-46 , 2023
Link: https://doi.org/10.1002/..
 
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7

A beneficial role of GLP-1 receptor agonist therapy in ABCC..:

Nakhleh, Afif ; Goldenberg-Furmanov, Mirela ; Goldstein, Rayna..
Journal of Diabetes and its Complications.  37 (2023)  9 - p. 108566 , 2023
Link: https://doi.org/10.1016/..
 
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8

Bi-allelic variants in INTS11 are associated with a complex..:

Tepe, Burak ; Macke, Erica L. ; Niceta, Marcello...
The American Journal of Human Genetics.  110 (2023)  5 - p. 774-789 , 2023
Link: https://doi.org/10.1016/..
 
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9

Autosomal dominant non-syndromic hearing loss maps to DFNA3..:

Pater, Justin A. ; Penney, Cindy ; O'Rielly, Darren D....
Human Genetics.  141 (2022)  3-4 - p. 431-444 , 2022
Link: https://doi.org/10.1007/..
 
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10

Prenatal diagnosis of microcephaly as shown by plateauing o..:

Malinger, Gustavo ; Haratz Krajden, Karina ; Brinbaum, Roee...
Prenatal Diagnosis.  42 (2022)  10 - p. 1343-1345 , 2022
Link: https://doi.org/10.1002/..
 
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11

Refining the Phenotypic Spectrum of KMT5B-Associated Develo..:

Eliyahu, Aviva ; Barel, Ortal ; Greenbaum, Lior...
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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12

Benefit versus risk of chromosomal microarray analysis perf..:

Moshonov, Rami ; Hod, Keren ; Azaria, Bella...
PLOS ONE.  16 (2021)  4 - p. e0250734 , 2021
Link: https://doi.org/10.1371/..
 
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13

Early and late manifestations of neuropathy due to HSPB1 mu..:

Greenbaum, Lior ; Ben‐David, Merav ; Nikitin, Vera...
Annals of Clinical and Translational Neurology.  8 (2021)  6 - p. 1260-1268 , 2021
Link: https://doi.org/10.1002/..
 
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14

High rate of abnormal findings in Prenatal Exome Trio in lo..:

Vaknin, Noam ; Azoulay, Noy ; Tsur, Erez...
Prenatal Diagnosis.  42 (2021)  6 - p. 725-735 , 2021
Link: https://doi.org/10.1002/..
 
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15

Biallelic variants in ETV2 in a family with congenital hear..:

Basel-Salmon, Lina ; Ruhrman-Shahar, Noa ; Barel, Ortal...
European Journal of Medical Genetics.  64 (2021)  2 - p. 104124 , 2021
Link: https://doi.org/10.1016/..
 
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