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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Am J Hum Genet. 2018 Dec 6;103(6):1054-1055. doi: 10.1016/j.ajhg.2018.11.009.
Am J Hum Genet. 2018.
PMID: 30526864
Free PMC article.
No abstract available.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study; Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.
Turnpenny PD, et al. Among authors: shaul lotan n.
Am J Hum Genet. 2018 Nov 1;103(5):786-793. doi: 10.1016/j.ajhg.2018.09.012. Epub 2018 Oct 18.
Am J Hum Genet. 2018.
PMID: 30343942
Free PMC article.
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Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder.
Abu-Libdeh B, Mor-Shaked H, Atawna AA, Gillis D, Halstuk O, Shaul-Lotan N, Slae M, Sultan M, Meiner V, Elpeleg O, Harel T.
Abu-Libdeh B, et al. Among authors: shaul lotan n.
Eur J Hum Genet. 2021 Jun;29(6):977-987. doi: 10.1038/s41431-021-00844-7. Epub 2021 Mar 15.
Eur J Hum Genet. 2021.
PMID: 33723354
Free PMC article.
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The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, Abu Salah N, Anikster Y, Banne E, Dar D, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Hershkovitz E, Josefsberg S, Khammash H, Keidar R, Korman SH, Landau Y, Lerman-Sagie T, Mandel D, Mandel H, Marom R, Morag I, Nadir E, Yosha-Orpaz N, Pode-Shakked B, Pras E, Reznik-Wolf H, Saada A, Segel R, Shaag A, Shaul Lotan N, Spiegel R, Tal G, Vaisid T, Zeharia A, Almashanu S.
Staretz-Chacham O, et al. Among authors: shaul lotan n.
J Inherit Metab Dis. 2021 May;44(3):606-617. doi: 10.1002/jimd.12331. Epub 2020 Nov 30.
J Inherit Metab Dis. 2021.
PMID: 33190319
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A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35.
Aguila A, Salah S, Kulasekaran G, Shweiki M, Shaul-Lotan N, Mor-Shaked H, Daana M, Harel T, McPherson PS.
Aguila A, et al. Among authors: shaul lotan n.
J Biol Chem. 2024 Apr;300(4):107124. doi: 10.1016/j.jbc.2024.107124. Epub 2024 Mar 1.
J Biol Chem. 2024.
PMID: 38432637
Free PMC article.
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A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.
Kurolap A, Barel D, Shaul Lotan N, Wexler I, Chai Gadot C, Mory A, Barel O, Almashanu S, Baris Feldman H.
Kurolap A, et al. Among authors: shaul lotan n.
Mol Genet Metab. 2023 Nov;140(3):107702. doi: 10.1016/j.ymgme.2023.107702. Epub 2023 Sep 26.
Mol Genet Metab. 2023.
PMID: 37776842
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Hereditary orotic aciduria identified by newborn screening.
Staretz-Chacham O, Damseh NS, Daas S, Abu Salah N, Anikster Y, Barel O, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Hershkovitz E, Josefsberg S, Landau Y, Lerman-Sagie T, Mandel H, Rock R, Rostami N, Saraf-Levy T, Shaul Lotan N, Spiegel R, Tal G, Ulanovsky I, Wilnai Y, Korman SH, Almashanu S.
Staretz-Chacham O, et al. Among authors: shaul lotan n.
Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023.
Front Genet. 2023.
PMID: 36999056
Free PMC article.
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Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas S, Abu Salah N, Anikster Y, Barel O, Damseh NS, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Habib C, Josefsberg S, Korman SH, Kneller K, Landau Y, Lerman-Sagie T, Mandel H, Manor Y, Moady Abdalla T, Rock R, Rostami N, Saada A, Saraf-Levy T, Shaul Lotan N, Spiegel R, Staretz-Chacham O, Tal G, Ulanovsky I, Vaisid T, Wilnai Y, Almashanu S.
Daas S, et al. Among authors: shaul lotan n.
J Inherit Metab Dis. 2023 Mar;46(2):232-242. doi: 10.1002/jimd.12580. Epub 2022 Dec 20.
J Inherit Metab Dis. 2023.
PMID: 36515074
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