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Mor‐Shaked, Hagar
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1

A recurrent de novo variant in NUSAP1 escapes nonsense‐medi..:

Mo, Alisa ; Paz‐Ebstein, Emuna ; Yanovsky‐Dagan, Shira...
Clinical Genetics.  104 (2023)  1 - p. 73-80 , 2023
Link: https://doi.org/10.1111/..
 
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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

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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4

The many etiologies of nonimmune hydrops fetalis diagnosed ..:

Wagner, Tova ; Fahham, Duha ; Frumkin, Ayala...
Prenatal Diagnosis.  42 (2021)  7 - p. 881-889 , 2021
Link: https://doi.org/10.1002/..
 
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5

Biallelic deletion in a minimal CAPN15 intron in siblings w..:

Mor‐Shaked, Hagar ; Salah, Somaya ; Yanovsky‐Dagan, Shira...
Clinical Genetics.  99 (2021)  4 - p. 577-582 , 2021
Link: https://doi.org/10.1111/..
 
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6

Benign SLC39A14 Course ofDystonia‐ParkinsonismSecondary to ..:

Namnah, Montaser ; Bauer, Max ; Mor‐Shaked, Hagar...
Movement Disorders Clinical Practice.  7 (2020)  5 - p. 569-570 , 2020
Link: https://doi.org/10.1002/..
 
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7

Grandparental genotyping enhances exome variant interpretat..:

Daum, Hagit ; Mor‐Shaked, Hagar ; Ta‐Shma, Asaf...
American Journal of Medical Genetics Part A.  182 (2020)  4 - p. 689-696 , 2020
Link: https://doi.org/10.1002/..
 
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8

De novo variant in AMOTL1 in infant with cleft lip and pala..:

Rips, Jonathan ; Mor‐Shaked, Hagar ; Erdin, Serkan...
American Journal of Medical Genetics Part A.  185 (2020)  1 - p. 190-195 , 2020
Link: https://doi.org/10.1002/..
 
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9

Homozygous variants in MAPRE2 and CDON in individual with s..:

Berkun, Lina ; Slae, Mordechai ; Mor‐Shaked, Hagar...
American Journal of Medical Genetics Part A.  179 (2019)  12 - p. 2454-2458 , 2019
Link: https://doi.org/10.1002/..
 
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10

A neurodevelopmental disorder associated with a loss-of-fun..:

Aguila, Adriana ; Salah, Somaya ; Kulasekaran, Gopinath...
Journal of Biological Chemistry.  300 (2024)  4 - p. 107124 , 2024
Link: https://doi.org/10.1016/..
 
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11

USP27Xvariants underlying X-linked intellectual disability ..:

Koch, Intisar ; Slovik, Maya ; Zhang, Yuling...
Life Science Alliance.  7 (2024)  3 - p. e202302258 , 2024
Link: https://doi.org/10.26508..
 
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12

Unbiased phenotype and genotype matching maximizes gene dis..:

Rips, Jonathan ; Halstuk, Orli ; Fuchs, Adina...
Genetics in Medicine.  26 (2024)  4 - p. 101068 , 2024
Link: https://doi.org/10.1016/..
 
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13

Neurodevelopmental disorder mutations in the purine biosynt..:

O'Neill, Audrey G. ; Burrell, Anika L. ; Zech, Michael...
Journal of Biological Chemistry.  299 (2023)  8 - p. 105012 , 2023
Link: https://doi.org/10.1016/..
 
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14

Prenatal diagnosis of lanosterol synthase deficiency: Fetal..:

Matza Porges, Sigal ; Mor-Shaked, Hagar ; Shaag, Avraham..
European Journal of Medical Genetics.  66 (2023)  10 - p. 104825 , 2023
Link: https://doi.org/10.1016/..
 
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15

Exome sequencing for structurally normal fetuses—yields and..:

Daum, Hagit ; Harel, Tamar ; Millo, Talya...
European Journal of Human Genetics.  31 (2022)  2 - p. 164-168 , 2022
Link: https://doi.org/10.1038/..
 
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