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Pode-Shakked, Ben
168  results:
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1

GRID1/GluD1 homozygous variants linked to intellectual disa..:

Ung, Dévina C. ; Pietrancosta, Nicolas ; Badillo, Elena Baz...
Molecular Psychiatry.  29 (2024)  4 - p. 1205-1215 , 2024
Link: https://doi.org/10.1038/..
 
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2

Clinical impact of exome sequencing in the setting of a gen..:

Kagan, Maayan ; Semo-Oz, Rotem ; Ben Moshe, Yishay...
Frontiers in Genetics.  13 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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3

ARF1-related disorder: phenotypic and molecular spectrum:

de Sainte Agathe, Jean-Madeleine ; Pode-Shakked, Ben ; Naudion, Sophie...
Journal of Medical Genetics.  60 (2023)  10 - p. 999-1005 , 2023
Link: https://doi.org/10.1136/..
 
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4

Hereditary neuropathy with liability to pressure palsies (H..:

Karklinsky, Shani ; Kugler, Shir ; Bar-Yosef, Omer...
Italian Journal of Pediatrics.  48 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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5

Broadening the phenotype of LRRK1 mutations - Features of m..:

Chorin, Odelia ; Chowers, Guy ; Agbariah, Rawan...
European Journal of Medical Genetics.  65 (2022)  1 - p. 104383 , 2022
Link: https://doi.org/10.1016/..
 
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6

Oculocutaneous albinism and bleeding diathesis due to a nov..:

Marek-Yagel, Dina ; Abudi-Sinreich, Shachar ; Macarov, Michal...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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7

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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8

Glycogen Storage Disease type IA refractory to cornstarch: ..:

Steg Saban, Or ; Pode-Shakked, Ben ; Abu-Libdeh, Bassam...
European Journal of Medical Genetics.  65 (2022)  6 - p. 104518 , 2022
Link: https://doi.org/10.1016/..
 
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9

eP099: Wiedemann-Rautenstrauch syndrome- New pathways for a..:

Chorin, Odelia ; Shani, Hagit ; Moran, Gal...
Genetics in Medicine.  24 (2022)  3 - p. S65 , 2022
Link: https://doi.org/10.1016/..
 
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10

Biallelic DAW1 variants cause a motile ciliopathy character..:

Leslie, Joseph S. ; Hjeij, Rim ; Vivante, Asaf...
Genetics in Medicine.  24 (2022)  11 - p. 2249-2261 , 2022
Link: https://doi.org/10.1016/..
 
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11

A multidisciplinary nephrogenetic referral clinic for child..:

Pode-Shakked, Ben ; Ben-Moshe, Yishay ; Barel, Ortal...
Pediatric Nephrology.  37 (2022)  7 - p. 1623-1646 , 2022
Link: https://doi.org/10.1007/..
 
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12

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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13

Nonsense mutation in the novel PERCC1 gene as a genetic cau..:

Marek-Yagel, Dina ; Stenke, Emily ; Pode-Shakked, Ben...
Human Genetics.  142 (2022)  5 - p. 691-696 , 2022
Link: https://doi.org/10.1007/..
 
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14

Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Pr..:

Staretz-Chacham, Orna ; Amar, Shirly ; Almashanu, Shlomo...
Genes.  12 (2021)  8 - p. 1140 , 2021
Link: https://doi.org/10.3390/..
 
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15

Ophthalmic manifestations in Kabuki (make-up) syndrome: A s..:

Merdler-Rabinowicz, Rona ; Prat, Daphna ; Pode-Shakked, Ben...
European Journal of Medical Genetics.  64 (2021)  6 - p. 104210 , 2021
Link: https://doi.org/10.1016/..
 
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