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Results 1 - 10 of 14 for Null syndrome
  1. Thrombocytopenia-absent radius syndrome 
    ... a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012 Feb 26;44(4):435- ...
    https://medlineplus.gov/.../thrombocytopenia-absent-radius-syndrome - Genetics
  2. RBM8A gene 
    ... a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012 Feb 26;44(4):435- ...
    https://medlineplus.gov/genetics/gene/rbm8a - Genetics
  3. Chromosome 1 
    ... a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012 Feb 26;44(4):435- ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics
  4. Stüve-Wiedemann syndrome 
    ... Munnich A, Legeai-Mallet L, Cormier-Daire V. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2): ...
    https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome - Genetics
  5. Schwartz-Jampel syndrome 
    ... Munnich A, Legeai-Mallet L, Cormier-Daire V. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2): ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  6. LIFR gene 
    ... Munnich A, Legeai-Mallet L, Cormier-Daire V. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2): ...
    https://medlineplus.gov/genetics/gene/lifr - Genetics
  7. COL5A1 gene 
    ... Atkinson M, Hoffman GG, Greenspan DS, Byers PH. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/col5a1 - Genetics
  8. Cerebral folate transport deficiency 
    ... Genetic Testing Registry: Cerebral folate transport deficiency Neurodegenerative syndrome due ... Cario H, Bode H, Debatin KM, Opladen T, Schwarz K. Congenital null mutations of the FOLR1 gene: a progressive neurologic ...
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
  9. GATA2 Deficiency From the National Institutes of Health (National Institute of Allergy and Infectious Diseases) - PDF  
    Immune System and Disorders/Specifics ... Immune System and Disorders ... National Institute of Allergy and Infectious Diseases ... PDF ... From the National Institutes of ...
    https://www.niaid.nih.gov/sites/default/files/GATA2-Factsheet.pdf - External Health Links
  10. COL11A1 gene 
    ... tissues and the signs and symptoms of Marshall syndrome. COLL6 collagen type ... and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. Clin Genet. 2012 Aug;82(2):147- ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
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