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1 . Academic Journal
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
저자
by
Ohad Wormser
;
Yonatan Perez
;
Vadim Dolgin
;
Bahman Kamali
;
Jared A. Tangeman
, et al.
소스
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-11 (2023)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families
저자
by
Anat Bahat Dinur
;
Ortal Buchbut
;
Libe Gradstein
;
Baker Elsana
;
Ofek Freund
, et al.
소스
Rambam Maimonides Medical Journal, Vol 15, Iss 1, p e0005 (2024)
Open Access (DOAJ)
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7 . Academic Journal
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies
저자
by
Aasem Abu Shtaya
;
Inbal Kedar
;
Lily Bazak
;
Lina Basel-Salmon
;
Sarit Farage Barhom
, et al.
소스
Genes, Vol 15, Iss 3, p 355 (2024)
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7 . Academic Journal
Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center
저자
by
Odeya David
;
Rotem Agur
;
Rosa Novoa
;
David Shaki
;
Dganit Walker
, et al.
소스
Frontiers in Pediatrics, Vol 10 (2022)
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7 . Academic Journal
Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred
저자
by
Max Drabkin
;
Ohad S. Birk
;
Ruth Birk
.
소스
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Open Access (BioMed Central)
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5 . Academic Journal
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency
저자
by
Orna Staretz‐Chacham
;
Lars Schlotawa
;
Ohad Wormser
;
Inbal Golan‐Tripto
;
Ohad S. Birk
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Open Access (Wiley)
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7 .
Asymptomatic Familial Hyperprolactinemia Caused by a Unique bi-Allelic Variant in the Prolactin-Receptor Gene
저자
by
Yoav Natif
;
Matan M. Jean
;
Ohad S. Birk
;
Marina Eskin-Schwartz
;
Merav Fraenkel
, et al.
소스
Endocrine Abstracts
.
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7 .
PSMC1
variant causes a novel neurological syndrome
저자
by
Sarit Aharoni
;
Regina Proskorovski‐Ohayon
;
Ramesh Kumar Krishnan
;
Yuval Yogev
;
Ohad Wormser
, et al.
소스
Clinical Genetics
. 102:324-332
Open Access (OpenAIRE)
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7 .
Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy
저자
by
Yuval Yogev
;
Jacob Bistritzer
;
Yair Sadaka
;
Analia Michaelovsky
;
Yuval Cavari
, et al.
소스
Molecular Diagnosis & Therapy
. 26:561-568
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7 .
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
저자
by
Daniel Halperin
;
Nadav Agam
;
Maher Hallak
;
Miora Feinstein
;
Max Drabkin
, et al.
소스
Clinical Genetics
. 102:123-129
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