Birk OS - Search Results

1

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: birk os. 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.

2

Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient.

Galron D, Birk OS, Kazanovitz A, Moses SW, Hershkovitz E. Galron D, et al. Among authors: birk os. J Inherit Metab Dis. 2004;27(2):267-73. doi: 10.1023/B:BOLI.0000028780.01670.61. J Inherit Metab Dis. 2004. PMID: 15159657 Review.

3

A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.

Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, Shelef I, Langer Y, Birk OS. Volodarsky M, et al. Among authors: birk os. Hum Mutat. 2013 Apr;34(4):582-6. doi: 10.1002/humu.22274. Hum Mutat. 2013. PMID: 23316006

4

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.

Yogev Y, Perez Y, Noyman I, Madegem AA, Flusser H, Shorer Z, Cohen E, Kachko L, Michaelovsky A, Birk R, Koifman A, Drabkin M, Wormser O, Halperin D, Kadir R, Birk OS. Yogev Y, et al. Among authors: birk os, birk r. Eur J Hum Genet. 2017 Aug;25(8):966-972. doi: 10.1038/ejhg.2017.85. Epub 2017 May 10. Eur J Hum Genet. 2017. PMID: 28488683 Free PMC article.

5

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.

Perez Y, Wormser O, Sadaka Y, Birk R, Narkis G, Birk OS. Perez Y, et al. Among authors: birk os, birk r. Biomed Res Int. 2017;2017:3470234. doi: 10.1155/2017/3470234. Epub 2017 Oct 8. Biomed Res Int. 2017. PMID: 29119105 Free PMC article.

6

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: birk os. 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

7

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: birk os, birk r. 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

8

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.

Wormser O, Gradstein L, Kadar E, Yogev Y, Perez Y, Mashkit E, Elbedour K, Drabkin M, Markus B, Kadir R, Halperin D, Khalaila S, Levy J, Lifshitz T, Manor E, Birk OS. Wormser O, et al. Among authors: birk os. Am J Med Genet A. 2018 Dec;176(12):2695-2703. doi: 10.1002/ajmg.a.40668. Epub 2018 Dec 4. Am J Med Genet A. 2018. PMID: 30513137

9

Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel.

Drabkin M, Zilberberg N, Menahem S, Mulla W, Halperin D, Yogev Y, Wormser O, Perez Y, Kadir R, Etzion Y, Katz A, Birk OS. Drabkin M, et al. Among authors: birk os. Circ Genom Precis Med. 2018 Nov;11(11):e002293. doi: 10.1161/CIRCGEN.118.002293. Circ Genom Precis Med. 2018. PMID: 30571183 Clinical Trial.

10

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: birk os. Brain. 2019 Mar 1;142(3):574-585. doi: 10.1093/brain/awz004. Brain. 2019. PMID: 30715179 Free PMC article.

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