Search Results - "Azmath M"

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Genetic Polymorphisms Associated with Vincristine Pharmacokinetics and Vincristine-Induced Peripheral Neuropathy in Pediatric Oncology Patients.

Authors: van de Velde, Mirjam E. Uittenboogaard, Aniek Yang, Wenjian et al.

Source: Cancers. Jul2022, Vol. 14 Issue 14, pN.PAG-N.PAG. 17p.

Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene.

Authors: Huang, Yufeng Bi, Bo Zhao, Peiwei et al.

Source: Molecular Genetics & Genomic Medicine. Jan2022, Vol. 10 Issue 1, p1-8. 8p.

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.

Authors: Meyer AP Forrest ME Nicolau S et al.

Source: Human mutation [Hum Mutat] 2022 Jul; Vol. 43 (7), pp. 869-876. Date of Electronic Publication: 2022 Apr 21.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?

Authors: Zhang H Zhou ZW Sun L

Source: Journal of neurochemistry [J Neurochem] 2021 May; Vol. 157 (3), pp. 351-369. Date of Electronic Publication: 2020 Dec 19.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: Wiley on behalf of the International Society for Neurochemistry Country of Publication: England NLM ID: 2985190R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-4159 (Electronic) Linking ISSN: 00223042 NLM ISO Abbreviation: J Neurochem Subsets: MEDLINE

Unifocal versus Multiple Ileal Neuroendocrine Tumors Location: An Embryological Origin.

Authors: Kalifi M Walter T Milot L et al.

Source: Neuroendocrinology [Neuroendocrinology] 2021; Vol. 111 (8), pp. 786-793. Date of Electronic Publication: 2020 Sep 30.

Publication Type: Journal Article

Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 0035665 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1423-0194 (Electronic) Linking ISSN: 00283835 NLM ISO Abbreviation: Neuroendocrinology Subsets: MEDLINE

GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.

Authors: Markovitz R Ghosh R Kuo ME et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 May; Vol. 182 (5), pp. 1167-1176. Date of Electronic Publication: 2020 Mar 17.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE