共 50 条
- [1] Rare Genetic Causes of Autosomal Dominant or Recessive HypercholesterolaemiaIUBMB LIFE, 2010, 62 (02) : 125 - 131Soutar, Anne K.
- [2] Loss-of-function of AMFR causes autosomal recessive hereditary spastic paraplegia by altering lipid metabolismEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 4 - 5Deng, RuizhiSalsench, Eva MedicoNikoncuk, AnitaKuhn, NikoRamakrishnan, ReshmiLanko, KristinaSanderson, Leslievan der Linde, Herma C.Yousefi, SoheilCapo, Ivanvan den Herik, Evita Medicivan Slegtenhorst, Marjonvan Minkelen, RickWillemsen, Robde Valk, WalterGeeven, GeertMetcalfe, KayDe Simone, LenikaKuntz, NancyBouman, ArjanHoefsloot, LiesZaki, MahaGleeson, JosephArold, Stefan T.Van Ham, TjakkoMaroofian, RezaBarakat, Stefan
- [3] STIL mutation causes autosomal recessive microcephalic lobar holoprosencephalyHuman Genetics, 2015, 134 : 45 - 51Naseebullah KakarJamil AhmadDeborah J. Morris-RosendahlJanine AltmüllerKatrin FriedrichGotthold BarbiPeter NürnbergChristian KubischWilliam B. DobynsGuntram Borck
- [4] STIL mutation causes autosomal recessive microcephalic lobar holoprosencephalyHUMAN GENETICS, 2015, 134 (01) : 45 - 51Kakar, NaseebullahAhmad, JamilMorris-Rosendahl, Deborah J.Altmueller, JanineFriedrich, KatrinBarbi, GottholdNuernberg, PeterKubisch, ChristianDobyns, William B.Borck, Guntram
- [5] Mutation of ATF6 causes autosomal recessive achromatopsiaHUMAN GENETICS, 2015, 134 (09) : 941 - 950Ansar, MuhammadSantos-Cortez, Regie Lyn P.Saqib, Muhammad Arif NadeemZulfiqar, FareehaLee, KwanghyukAshraf, Naeem MahmoodUllah, EhsanWang, XinSajid, SundusKhan, Falak SherAmin-ud-Din, MuhammadSmith, Joshua D.Shendure, JayBamshad, Michael J.Nickerson, Deborah A.Hameed, AbdulRiazuddin, SaimaAhmed, Zubair M.Ahmad, WasimLeal, Suzanne M.
- [6] Mutation of ATF6 causes autosomal recessive achromatopsiaHuman Genetics, 2015, 134 : 941 - 950Muhammad AnsarRegie Lyn P. Santos-CortezMuhammad Arif Nadeem SaqibFareeha ZulfiqarKwanghyuk LeeNaeem Mahmood AshrafEhsan UllahXin WangSundus SajidFalak Sher KhanMuhammad Amin-ud-DinJoshua D. SmithJay ShendureMichael J. BamshadDeborah A. NickersonAbdul HameedSaima RiazuddinZubair M. AhmedWasim AhmadSuzanne M. Leal
- [7] HACE1 deficiency causes an autosomal recessive neurodevelopmental syndromeJOURNAL OF MEDICAL GENETICS, 2015, 52 (12) : 797 - 803Hollstein, RonjaParry, David A.Nalbach, LisaLogan, Clare V.Strom, Tim M.Hartill, Verity L.Carr, Ian M.Korenke, Georg C.Uppal, SandeepAhmed, MushtaqWieland, ThomasMarkham, Alexander F.Bennett, Christopher P.Gillessen-Kaesbach, GabrieleSheridan, Eamonn G.Kaiser, Frank J.Bonthron, David T.
- [8] An autosomal recessive mutation in PYGM causes myophosphorylase deficiency in composite cattleJOURNAL OF ANIMAL SCIENCE, 2024, 102 : 39 - 40Batt, Mackenzie C.Venzor, Leila G.Gardner, KeriReith, Rachel R.Roberts, Kelsey A.Herrera, Nicolas J.Fuller, Anna M.Sullivan, Gary A.Mulliniks, TravisSpangler, Matthew L.Valberg, Stephanie J.Steffen, David J.Petersen, Jessica L.
- [9] Thymidine phosphorylase deficiency causes MNGIE:: An autosomal recessive mitochondrial disorderNUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2004, 23 (8-9): : 1217 - 1225Hirano, MMartí, RSpinazzola, ANishino, INishigaki, Y
- [10] Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosaEUROPEAN JOURNAL OF OPHTHALMOLOGY, 2012, 22 (04) : 647 - 653Ksantini, MohamedLafont, EsteleBocquet, BeatriceMeunier, IsabelleHamel, Christian P.