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Results 111 - 120 of 675 for p phenotype
  1. GeneReviews Glossary From the National Institutes of Health (National Center for Biotechnology Information)  
    Newborn Screening/Reference Desk ... Newborn Screening ... Genetic Testing/Reference Desk ... Genetic Testing ... National Center for Biotechnology Information ... From the National ...
    https://www.ncbi.nlm.nih.gov/books/NBK5191 - External Health Links
  2. COL4A5 gene 
    ... K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 ...
    https://medlineplus.gov/genetics/gene/col4a5 - Genetics
  3. Fraser syndrome 
    ... doi: 10.1038/ng1142. Citation on PubMed Petrou P, Makrygiannis AK, Chalepakis G. The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype. Connect Tissue Res. 2008;49(3):277-82. ...
    https://medlineplus.gov/genetics/condition/fraser-syndrome - Genetics
  4. RIT1 gene 
    ... Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerova A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M. Genotype and phenotype in patients with Noonan syndrome and a RIT1 ...
    https://medlineplus.gov/genetics/gene/rit1 - Genetics
  5. NBEAL2 gene 
    ... Candia E, Pujol-Moix N, Heller PG, Noris P, De Rocco D, Podda GM, Glembotsky AC, Cattaneo M, Balduini CL, Savoia A. Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia ...
    https://medlineplus.gov/genetics/gene/nbeal2 - Genetics
  6. Glycogen storage disease type I 
    ... PubMed Melis D, Fulceri R, Parenti G, Marcolongo P, Gatti R, Parini R, Riva E, Della Casa R, Zammarchi E, Andria G, Benedetti A. Genotype/phenotype correlation in glycogen storage disease type 1b: a ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-i - Genetics
  7. Gray platelet syndrome 
    ... Candia E, Pujol-Moix N, Heller PG, Noris P, De Rocco D, Podda GM, Glembotsky AC, Cattaneo M, Balduini CL, Savoia A. Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia ...
    https://medlineplus.gov/genetics/condition/gray-platelet-syndrome - Genetics
  8. OFD1 gene 
    ... A, Goldenberg A, Mortier G, Heron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial- ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  9. Alport syndrome 
    ... K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  10. GALNS gene 
    ... Sukegawa K, Kato Z, Carrozzo R, Di Natale P, Christensen E, Orii KO, Orii T, Kondo N, Tomatsu S. Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase. J Inherit ...
    https://medlineplus.gov/genetics/gene/galns - Genetics
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