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Noam Hadar

Showing results (11-20 of 26) with videos related to

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Clinical Genetics|March 12, 2020
B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literatureOrna Staretz-Chacham, Iris Noyman, Ohad Wormser, et al.
Clinical Genetics|November 25, 2024
Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic ExpansionTomer Poleg, Regina Proskorovski-Ohayon, Vadim Dolgin, et al.
Harefuah|December 25, 2025
[Monogenic Kidney Diseases in Children - Five Years of Experience from a Dedicated Nephrogenetic Clinic in Southern Israel]Ruth Schreiber, Rebbeka Kebesch, Vadim Dolgin, et al.
Journal of Medical Genetics|January 31, 2024
<i>ZNF142</i> mutation causes sex-dependent neurologic disorderRegina Proskorovski-Ohayon, Marina Eskin-Schwartz, Zamir Shorer, et al.
NPJ Genomic Medicine|March 14, 2025
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretationTomer Poleg, Noam Hadar, Gali Heimer, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 6, 2023
Limb girdle muscular disease caused by <i>HMGCR</i> mutation and statin myopathy treatable with mevalonolactoneYuval Yogev, Zamir Shorer, Arie Koifman, et al.
Journal of Inherited Metabolic Disease|January 25, 2023
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutationAmit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, et al.
JIMD Reports|January 10, 2025
Severe neonatal hypotonia due to <i>SLC30A5</i> variant affecting function of ZnT5 zinc transporterVadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, et al.
Clinical Genetics|July 21, 2022
PSMC1 variant causes a novel neurological syndromeSarit Aharoni, Regina Proskorovski-Ohayon, Ramesh Kumar Krishnan, et al.
NPJ Genomic Medicine|August 14, 2023
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and colobomaOhad Wormser, Yonatan Perez, Vadim Dolgin, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Clinical Genetics|March 12, 2020
B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literatureOrna Staretz-Chacham, Iris Noyman, Ohad Wormser, et al.
Clinical Genetics|November 25, 2024
Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic ExpansionTomer Poleg, Regina Proskorovski-Ohayon, Vadim Dolgin, et al.
Harefuah|December 25, 2025
[Monogenic Kidney Diseases in Children - Five Years of Experience from a Dedicated Nephrogenetic Clinic in Southern Israel]Ruth Schreiber, Rebbeka Kebesch, Vadim Dolgin, et al.
Journal of Medical Genetics|January 31, 2024
<i>ZNF142</i> mutation causes sex-dependent neurologic disorderRegina Proskorovski-Ohayon, Marina Eskin-Schwartz, Zamir Shorer, et al.
NPJ Genomic Medicine|March 14, 2025
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretationTomer Poleg, Noam Hadar, Gali Heimer, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 6, 2023
Limb girdle muscular disease caused by <i>HMGCR</i> mutation and statin myopathy treatable with mevalonolactoneYuval Yogev, Zamir Shorer, Arie Koifman, et al.
Journal of Inherited Metabolic Disease|January 25, 2023
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutationAmit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, et al.
JIMD Reports|January 10, 2025
Severe neonatal hypotonia due to <i>SLC30A5</i> variant affecting function of ZnT5 zinc transporterVadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, et al.
Clinical Genetics|July 21, 2022
PSMC1 variant causes a novel neurological syndromeSarit Aharoni, Regina Proskorovski-Ohayon, Ramesh Kumar Krishnan, et al.
NPJ Genomic Medicine|August 14, 2023
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and colobomaOhad Wormser, Yonatan Perez, Vadim Dolgin, et al.
Pageof 3