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Results 1 - 10 of 161 for robert syndrome 9
  1. SOS1 gene 
    ... Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, ... Nat Genet. 2007 Jan;39(1):8-9. doi: 10.1038/ng0107-8. No abstract available. ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  2. CAV3 gene 
    ... of CAV3 PubMed CAVEOLIN 3; CAV3 LONG QT SYNDROME 9; LQT9 NCBI Gene ClinVar Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, ...
    https://medlineplus.gov/genetics/gene/cav3 - Genetics
  3. CHD3 gene 
    ... Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, ... language. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014- ...
    https://medlineplus.gov/genetics/gene/chd3 - Genetics
  4. Snijders Blok-Campeau syndrome 
    ... Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, ... language. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014- ...
    https://medlineplus.gov/.../condition/snijders-blok-campeau-syndrome - Genetics
  5. SMARCA4 gene 
    ... of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219. Citation on PubMed Wilson BG, Roberts CW. SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer. 2011 Jun 9;11(7):481-92. doi: 10.1038/nrc3068. ...
    https://medlineplus.gov/genetics/gene/smarca4 - Genetics
  6. Lissencephaly with cerebellar hypoplasia 
    ... Lissencephaly 3 Lissencephaly syndrome, Norman-Roberts type Norman-Roberts syndrome Genetic Testing Registry: Lissencephaly type 3 Genetic Testing Registry: Norman-Roberts syndrome Cobblestone lissencephaly National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  7. SCN9A gene 
    ... SCN9A PubMed SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 9; SCN9A DRAVET SYNDROME; DRVT GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7 NCBI Gene ClinVar Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan ...
    https://medlineplus.gov/genetics/gene/scn9a - Genetics
  8. Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 
    ... postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome ... Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams ...
    https://medlineplus.gov/...ogyria-polydactyly-hydrocephalus-syndrome - Genetics
  9. SMARCA2 gene 
    ... Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet. 2012 Feb 26;44(4):445-9, S1. doi: 10.1038/ng.1105. Citation on PubMed Wong KM, Qiu X, Cheng D, Azad AK, Habbous S, Palepu P, Mirshams M, Patel D, Chen Z, Roberts H, Knox J, Marquez S, Wong R, Darling ...
    https://medlineplus.gov/genetics/gene/smarca2 - Genetics
  10. TGFBR1 gene 
    ... Nat Genet. 2011 Feb 27;43(4):365-9. doi: 10.1038/ng.780. Citation on PubMed ... Dietz HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. ...
    https://medlineplus.gov/genetics/gene/tgfbr1 - Genetics
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