共 50 条
- [42] THE MOUSE BPK MUTATION, A NEW MODEL OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) IS GENETICALLY DISTINCTJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1995, 6 (03): : 696 - 696GUAYWOODFORD, LMCHRISTINE, BSAVNER, ED
- [43] Short beak: A new autosomal recessive semilethal mutation in Japanese quailJOURNAL OF HEREDITY, 1998, 89 (02) : 175 - 178Tsudzuki, MNakane, YWada, A
- [44] New Mutation in Chromosome 9 Associated with Familial Autosomal Recessive MacrothrombocytopeniaBLOOD, 2014, 124 (21)Revel-Vilk, ShoshanaShai, ElaGashem, NivinHyam, EstiSpectre, GaliaElpeleg, OrlyVaron, David
- [45] Mutation screening for autosomal recessive malignant osteopetrosisJOURNAL OF MEDICAL GENETICS, 2002, 39 : S64 - S64Taylor, ACranston, TTabrah, SNorbury, G
- [46] AUTOSOMAL RECESSIVE MUTATION IN SUGAR RESPONSE OF DROSOPHILANATURE, 1974, 248 (5445) : 243 - 244ISONO, KKIKUCHI, T
- [47] FRAGILITAS OSSIUM HEREDITARIA WITH BLUE SCLERAE AND ITS TREATMENT WITH ANDROGENS AND OESTROGENSACTA MEDICA SCANDINAVICA, 1952, 141 (05): : 309 - +HERNBERG, CA
- [48] Autosomal Recessive Spastic Ataxia of Charlovoix-Saguenay. A new pathogenic mutationNEUROLOGY, 2019, 92 (15)Flanigan, MoiraSafarpour, YasamanWiszniewski, WojciechChahin, NizarSafarpour, Delaram
- [49] A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonismNEUROSCIENCE LETTERS, 2000, 289 (01) : 66 - 68Muñoz, EPastor, PMartí, MJOliva, RTolosa, E
- [50] Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and humanNature Medicine, 2003, 9 : 399 - 406Nader ChalhoubNadia BenachenhouVenkatesh RajapurohitamMonica PataMathieu FerronAnnalisa FrattiniAnna VillaJean Vacher