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Results 1 - 10 of 23 for hum 195
  1. HPRT1 gene 
    ... molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Hum Genet. 1992 Nov;90(3):195-207. doi: 10.1007/BF00220062. Citation on PubMed
    https://medlineplus.gov/genetics/gene/hprt1 - Genetics
  2. What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?: MedlinePlus Genetics 
    ... in prenatal screening. Summary and recommendations. Eur J Hum Genet. 2015 Apr 1. doi: 10.1038/ejhg.2015.56. [Epub ahead of print] PubMed: 25828867 . Goldwaser T, Klugman S. Cell-free DNA for the detection of fetal aneuploidy. Fertil Steril. 2018 Feb;109(2):195-200. doi: 10.1016/j.fertnstert.2017.12. ...
    https://medlineplus.gov/genetics/understanding/testing/nipt - Genetics
  3. ACADS gene 
    ... deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat. 2001 ... Mol Genet Metab. 2008 Dec;95(4):195-200. doi: 10.1016/j.ymgme.2008.09. ...
    https://medlineplus.gov/genetics/gene/acads - Genetics
  4. ALG12 gene 
    ... defect in congenital disorder of glycosylation type lg. Hum Mol Genet. 2002 ... J. 2002 Oct 1;367(Pt 1):195-201. doi: 10.1042/BJ20020794. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/alg12 - Genetics
  5. RMRP gene 
    ... hair hypoplasia. Cell. 2001 Jan 26;104(2):195-203. doi: ... essential cell growth regulator. Am J Hum Genet. 2005 Nov;77(5):795-806. doi: ...
    https://medlineplus.gov/genetics/gene/rmrp - Genetics
  6. Frontonasal dysplasia 
    ... frontonasal dysplasia. Arq Neuropsiquiatr. 2004 Jun;62(2A):195-8. doi: 10.1590/s0004-282x2004000200001. Epub 2004 ... NA. ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet. 2009 Nov 15;18(22):4357- ...
    https://medlineplus.gov/genetics/condition/frontonasal-dysplasia - Genetics
  7. EDA gene 
    ... Cytokine Growth Factor Rev. 2014 Apr;25(2):195-203. doi: 10.1016/j.cytogfr.2014.01. ... in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet. 2001 May;9(5):355-63. doi: ...
    https://medlineplus.gov/genetics/gene/eda - Genetics
  8. Stormorken syndrome 
    ... distinct cellular responses. Acta Physiol (Oxf). 2009 Jan;195(1):29-35. doi: 10.1111/j.1748- ...
    https://medlineplus.gov/genetics/condition/stormorken-syndrome - Genetics
  9. STIM1 gene 
    ... distinct cellular responses. Acta Physiol (Oxf). 2009 Jan;195(1):29-35. doi: 10.1111/j.1748- ...
    https://medlineplus.gov/genetics/gene/stim1 - Genetics
  10. DMPK gene 
    ... DM2. Biochim Biophys Acta. 2007 Feb;1772(2):195-204. doi: 10.1016/j.bbadis.2006.05. ... predictor of progressive myotonic dystrophy type 1 phenotypes. Hum Mol Genet. 2019 Jul 1;28(13):2245- ...
    https://medlineplus.gov/genetics/gene/dmpk - Genetics
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