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Gofin, Yoel
25  results:
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1

Expanded clinical phenotype and untargeted metabolomics ana..:

Walimbe, Ameya S. ; Machol, Keren ; Kralik, Stephen F....
BMC Neurology.  24 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

P792: Amniotic fluid fetal DNA concentration is higher in f..:

Gofin, Yoel ; Svirsky, Ran ; Ben Atav, Dana Lavi...
Genetics in Medicine Open.  2 (2024)  - p. 101700 , 2024
Link: https://doi.org/10.1016/..
 
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3

Two versus one newborn screens: Policy considerations for s..:

Chang, Hsiang-Chun ; Hunt, Patricia ; Gofin, Yoel...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108335 , 2024
Link: https://doi.org/10.1016/..
 
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4

Bi-allelic variants in CEP295 cause Seckel-like syndrome pr..:

Li, Niu ; Xu, Yufei ; Chen, Hongzhu...
eBioMedicine.  99 (2024)  - p. 104940 , 2024
Link: https://doi.org/10.1016/..
 
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5

P560: Community-oriented genetics: Establishing a new pedia..:

Gofin, Yoel ; Tibi, Fadel ; Sukenik-Halevy, Rivka
Genetics in Medicine Open.  2 (2024)  - p. 101459 , 2024
Link: https://doi.org/10.1016/..
 
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6

A familial deletion of 10p12.1 associated with thrombocytop..:

Manohar, Sujal ; Gofin, Yoel ; Streff, Haley...
American Journal of Medical Genetics Part A.  194 (2023)  1 - p. 77-81 , 2023
Link: https://doi.org/10.1002/..
 
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7

Wide range of phenotypic severity in individuals with late ..:

Keehan, Laura ; Haviland, Isabel ; Gofin, Yoel...
American Journal of Medical Genetics Part A.  188 (2022)  12 - p. 3516-3524 , 2022
Link: https://doi.org/10.1002/..
 
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8

Evidence-Based Genetic Testing for Individuals with Congeni..:

Gofin, Yoel ; Scott, Daryl A.
The Journal of Pediatrics.  248 (2022)  - p. 13-14 , 2022
Link: https://doi.org/10.1016/..
 
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9

Underlying genetic etiologies of congenital diaphragmatic h..:

Scott, Daryl A. ; Gofin, Yoel ; Berry, Aliska M..
Prenatal Diagnosis.  42 (2022)  3 - p. 373-386 , 2022
Link: https://doi.org/10.1002/..
 
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10

Evidence for an association betweenCoffin‐Sirissyndrome and..:

Gofin, Yoel ; Zhao, Xiaonan ; Gerard, Amanda...
American Journal of Medical Genetics Part A.  188 (2022)  9 - p. 2718-2723 , 2022
Link: https://doi.org/10.1002/..
 
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11

Delineation of a novel neurodevelopmental syndrome associat..:

Gofin, Yoel ; Wang, Tianyun ; Gillentine, Madelyn A....
Human Mutation.  43 (2022)  4 - p. 461-470 , 2022
Link: https://doi.org/10.1002/..
 
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12

eP132: Congenital diaphragmatic hernia as a feature of Coff..:

Gofin, Yoel ; Gerard, Amanda ; Wangler, Michael.
Genetics in Medicine.  24 (2022)  3 - p. S82 , 2022
Link: https://doi.org/10.1016/..
 
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13

Evidence that FGFRL1 contributes to congenital diaphragmati..:

Gofin, Yoel ; Mackay, Laura Palmer ; Machol, Keren...
American Journal of Medical Genetics Part A.  185 (2021)  3 - p. 836-840 , 2021
Link: https://doi.org/10.1002/..
 
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14

Evidence that FGFRL1 contributes to congenital diaphragmati..:

Gofin, Yoel ; Mackay, Laura Palmer ; Machol, Keren...
Molecular Genetics and Metabolism.  132 (2021)  - p. S84 , 2021
Link: https://doi.org/10.1016/..
 
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15

DYRK1B haploinsufficiency in a family with metabolic syndro..:

Orenstein, Naama ; Gofin, Yoel ; Shomron, Noam...
Clinical Genetics.  101 (2021)  2 - p. 265-266 , 2021
Link: https://doi.org/10.1111/..
 
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