Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 510 for Three M syndrome 1
  1. OBSL1 gene 
    ... gene mutations and the signs and symptoms of 3-M syndrome are unknown. More About This Health Condition KIAA0657 obscurin-like protein 1 isoform 1 precursor obscurin-like protein 1 isoform ...
    https://medlineplus.gov/genetics/gene/obsl1 - Genetics
  2. GTF2I gene 
    ... in social interactions. Autism Res. 2011 Feb;4(1):28-39. doi: 10.1002/aur.169. Epub 2010 Dec 3. Citation on PubMed Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol ...
    https://medlineplus.gov/genetics/gene/gtf2i - Genetics
  3. NOD2 gene 
    ... factor-kappaB activation: common genetic etiology with Blau syndrome. Blood. 2005 Feb 1;105(3):1195-7. doi: 10.1182/blood-2004-07-2972. Epub 2004 Sep 30. Citation on PubMed Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, Chamaillard ...
    https://medlineplus.gov/genetics/gene/nod2 - Genetics
  4. POR gene 
    ... causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar;36(3):228-30. doi: 10.1038/ng1300. Epub 2004 Feb 1. Citation on PubMed Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, ...
    https://medlineplus.gov/genetics/gene/por - Genetics
  5. RECQL4 gene 
    ... Larizza L, Magnani I, Roversi G. Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Cancer Lett. 2006 Jan 28;232(1):107-20. doi: 10.1016/j.canlet.2005.07.042. Epub 2005 Nov 3. Citation on PubMed Petkovic M, Dietschy T, Freire R, Jiao R, Stagljar I. ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
  6. SURF1 gene 
    ... cytochrome c oxidase by SURF1 mutations in Leigh syndrome. Biochim Biophys Acta. 2003 Sep 1;1639(1):53-63. doi: 10.1016/s0925-4439(03)00127-3. Citation on PubMed Pequignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, ...
    https://medlineplus.gov/genetics/gene/surf1 - Genetics
  7. MN1 gene 
    ... 1093/brain/awz379. Erratum In: Brain. 2020 Mar 1;143(3):e24. Citation on PubMed Mak CCY, Fung JLF, Lee M, Lin AE, Amiel J, Doherty D, Gordon CT, Chung BHY. MN1 C-Terminal Truncation Syndrome. 2020 Aug 13. In: Adam MP, Feldman J, ...
    https://medlineplus.gov/genetics/gene/mn1 - Genetics
  8. HPS3 gene 
    ... DKFZp686F0413 FLJ22704 Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome 3 protein HPS3_HUMAN SUTAL Tests of HPS3 PubMed HPS3 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 2, SUBUNIT 1; HPS3 NCBI Gene ClinVar Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, ...
    https://medlineplus.gov/genetics/gene/hps3 - Genetics
  9. KCNQ1 gene 
    ... mutation responsible for atrial fibrillation and short QT syndrome in utero. Cardiovasc Res. 2005 Dec 1;68(3):433-40. doi: 10.1016/j.cardiores.2005.06.023. Epub 2005 Aug 18. Citation on PubMed Huang L, Bitner-Glindzicz M, Tranebjaerg L, Tinker A. A spectrum of functional ...
    https://medlineplus.gov/genetics/gene/kcnq1 - Genetics
  10. SIL1 gene 
    ... frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjogren syndrome. J Neurol Sci. 2008 Jul 15;270(1-2):197-200. doi: 10.1016/j.jns.2008.02.012. Epub 2008 Apr 18. Citation on PubMed Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller ...
    https://medlineplus.gov/genetics/gene/sil1 - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next