共 50 条
- [41] Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndromeHUMAN GENETICS, 2005, 118 (3-4) : 508 - 514Watts, GDJMehta, SGZhao, CFRamdeen, SHamilton, SJNovack, DVMumm, SWhyte, MPMcGillivray, BKimonis, VE
- [42] Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndromeHuman Genetics, 2005, 118 : 508 - 514Giles D.J. WattsSarju G. MehtaChengfeng ZhaoSheena RamdeenSara Jane HamiltonDeborah V. NovackSteven MummMichael P. WhyteBarbara Mc GillivrayVirginia E. Kimonis
- [43] A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21JOURNAL OF MEDICAL GENETICS, 1998, 35 (09) : 788 - 789Inglehearn, CFTarttelin, EEKeen, TJBhattacharya, SSMoore, ATTaylor, RBird, AC
- [44] A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13JOURNAL OF HUMAN GENETICS, 2011, 56 (12) : 866 - 868Ansar, MuhammadLee, KwanghyukNaqvi, Syed Kamran-ul-HassanAndrade, Paula B.Basit, SulmanSantos-Cortez, Regie Lyn P.Ahmad, WasimLeal, Suzanne M.
- [45] Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21JOURNAL OF HUMAN GENETICS, 2013, 58 (02) : 98 - 101Mosrati, Mohamed AliSchrauwen, IsabelleBen Saiid, MariemAifa-Hmani, MouniraFransen, ErikMneja, MalekGhorbel, AbdelmonemVan Camp, GuyMasmoudi, Saber
- [46] Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21Journal of Human Genetics, 2013, 58 : 98 - 101Mohamed Ali MosratiIsabelle SchrauwenMariem Ben SaiidMounira Aifa-HmaniErik FransenMalek MnejaAbdelmonem GhorbelGuy Van CampSaber Masmoudi
- [47] Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21Human Genetics, 2002, 111 : 388 - 393Dineke S. VerbeekJurgen H. SchelhaasElly F. IppelFrits A. BeemerPeter L. PearsonRichard J. Sinke
- [48] Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21HUMAN GENETICS, 2002, 111 (4-5) : 388 - 393Verbeek, DSSchelhaas, JHIppel, EFBeemer, FAPearson, PLSinke, RJ
- [49] A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31–p36.13Journal of Human Genetics, 2011, 56 : 866 - 868Muhammad AnsarKwanghyuk LeeSyed Kamran-ul-Hassan NaqviPaula B AndradeSulman BasitRegie Lyn P Santos-CortezWasim AhmadSuzanne M Leal
- [50] Dominant optic atrophy (DOA) and sensorineural hearing loss: Clinical, biochemical, spectroscopic and molecular genetic study of a large Italian pedigree linked to a new locus an chromosome 16NEUROLOGY, 2007, 68 (12) : A42 - A42Carelli, ValerioSchimpf, SimoneValentino, Maria LuciaFuhrmann, NicoPapke, MonikaSchaich, SimoneTippmann, SabineBaumann, BrittaBarboni, PieroGhelli, AnnaBucchi, LauraLodi, RaffaeleBarbiroli, BrunoLiguori, RoccoCarroccia, RosannaVillanova, MarcelloMontagna, PasqualeBaruzzi, AgostinoWissinger, Bernd