Wormser O - Search Results

1

The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.

Staretz-Chacham O, Pode-Shakked B, Kristal E, Abraham SY, Porper K, Wormser O, Shelef I, Anikster Y. Staretz-Chacham O, et al. Among authors: wormser o. Nutrients. 2021 Oct 7;13(10):3523. doi: 10.3390/nu13103523. Nutrients. 2021. PMID: 34684524 Free PMC article.

2

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.

Cohen I, Staretz-Chacham O, Wormser O, Perez Y, Saada A, Kadir R, Birk OS. Cohen I, et al. Among authors: wormser o. Am J Med Genet A. 2018 Feb;176(2):330-336. doi: 10.1002/ajmg.a.38574. Epub 2017 Dec 11. Am J Med Genet A. 2018. PMID: 29226520

3

SEC31A mutation affects ER homeostasis, causing a neurological syndrome.

Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS. Halperin D, et al. Among authors: wormser o. J Med Genet. 2019 Mar;56(3):139-148. doi: 10.1136/jmedgenet-2018-105503. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464055

4

Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish.

Perez Y, Bar-Yaacov R, Kadir R, Wormser O, Shelef I, Birk OS, Flusser H, Birnbaum RY. Perez Y, et al. Among authors: wormser o. Brain. 2019 Mar 1;142(3):574-585. doi: 10.1093/brain/awz004. Brain. 2019. PMID: 30715179 Free PMC article.

5

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.

Staretz-Chacham O, Wormser O, Manor E, Birk OS, Ferreira CR. Staretz-Chacham O, et al. Among authors: wormser o. Am J Med Genet A. 2019 Jul;179(7):1293-1298. doi: 10.1002/ajmg.a.61138. Epub 2019 Apr 4. Am J Med Genet A. 2019. PMID: 30950220 Free PMC article.

6

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.

Staretz-Chacham O, Schlotawa L, Wormser O, Golan-Tripto I, Birk OS, Ferreira CR, Dierks T, Radhakrishnan K. Staretz-Chacham O, et al. Among authors: wormser o. Mol Genet Genomic Med. 2020 Sep;8(9):e1167. doi: 10.1002/mgg3.1167. Epub 2020 Feb 12. Mol Genet Genomic Med. 2020. PMID: 32048457 Free PMC article.

7

B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.

Staretz-Chacham O, Noyman I, Wormser O, Abu Quider A, Hazan G, Morag I, Hadar N, Raymond K, Birk OS, Ferreira CR, Koifman A. Staretz-Chacham O, et al. Among authors: wormser o. Clin Genet. 2020 Jun;97(6):920-926. doi: 10.1111/cge.13735. Epub 2020 Mar 16. Clin Genet. 2020. PMID: 32157688

8

Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.

Halperin D, Drabkin M, Wormser O, Yogev Y, Dolgin V, Shorer Z, Gradstein L, Shelef I, Flusser H, Birk OS. Halperin D, et al. Among authors: wormser o. Am J Med Genet A. 2020 Jun;182(6):1506-1512. doi: 10.1002/ajmg.a.61577. Epub 2020 Mar 31. Am J Med Genet A. 2020. PMID: 32232962

9

Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.

Staretz-Chacham O, Amar S, Almashanu S, Pode-Shakked B, Saada A, Wormser O, Hershkovitz E. Staretz-Chacham O, et al. Among authors: wormser o. Genes (Basel). 2021 Jul 28;12(8):1140. doi: 10.3390/genes12081140. Genes (Basel). 2021. PMID: 34440319 Free PMC article.

10

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3.

Halperin D, Agam N, Hallak M, Feinstein M, Drabkin M, Yogev Y, Wormser O, Shavit E, Gradstein L, Shelef I, Mijalovsky A, Flusser H, Birk OS. Halperin D, et al. Among authors: wormser o. Clin Genet. 2022 Aug;102(2):123-129. doi: 10.1111/cge.14143. Epub 2022 May 5. Clin Genet. 2022. PMID: 35443069 Free PMC article.

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