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- [12] Identification of a Novel Mutation in the CDHR1 Gene in a Family With Recessive Retinal DegenerationARCHIVES OF OPHTHALMOLOGY, 2012, 130 (10) : 1301 - 1308Duncan, Jacque L.Roorda, AustinNavani, MiliVishweswaraiah, SangeethaSyed, ReemaSoudry, ShiriRatnam, KavithaGudiseva, Harini V.Lee, PaulineGaasterland, TerryAyyagari, Radha
- [13] A novel homozygous c.1154+3_1151+6delAAGT mutation in CERKL causes autosomal recessive retinitis pigmentosa with a special phenotype in a consanguineous Tunisian FamilyACTA OPHTHALMOLOGICA, 2016, 94El Matri, L.Falfoul, Y.Habibi, I.Turki, A.Maamouri, R.El Matri, K.Chebil, A.
- [14] A novel mutation in the paraplegin gene in a family with autosomal recessive HSPJOURNAL OF NEUROLOGY, 2004, 251 : 188 - 188D'Angelo, MGTonelli, ARedaelli, EGuglieri, MFortunato, FTurconi, ACSciacco, MComi, GPBresolin, NBassi, MT
- [15] A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani familyBRITISH JOURNAL OF DERMATOLOGY, 2008, 158 (03) : 621 - 623Chishti, M. S.Kausar, N.Rafiq, M. A.Amin, M.Ahmad, W.
- [16] Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disabilityJOURNAL OF MEDICAL GENETICS, 2022, 59 (05) : 453 - 461Ravindran, EthirajGutierrez de Velazco, CynthiaGhazanfar, AliKraemer, NadineZaqout, SamiWaheed, AbdulHanif, MohsanMughal, SadiaPrigione, AlessandroLi, NaFang, XiangHu, HaoKaindl, Angela M.
- [17] A homozygous mutation in the novel gene ARFGAP2 is associated with nonsyndromic recessive inherited retinal degeneration (IRD).INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)Biswas, PoojaChekuri, Anil KumarEar, JasonBorooah, ShyamangaMatsui, HirokoD'Antonio, MatteoFrazer, Kelly A.Devalaraja, SindhuraKhan, Shahid YarNaeem, Muhammad AsifRiazuddin, SheikhAkram, JavedHejtmancik, J. FieldingGhosh, PradiptaRiazuddin, S. AmerAyyagari, Radha
- [18] A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disabilityBMC MEDICAL GENETICS, 2011, 12Khan, Muzammil AhmadRafiq, Muhammad ArshadNoor, AbdulAli, NadirAli, GhazanfarVincent, John B.Ansar, Muhammad
- [19] A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous familyNEUROMUSCULAR DISORDERS, 2015, 25 (01) : 55 - 59Baranello, GiovanniSaredi, SimonaSansanelli, SerenaSavadori, PaoloCanioni, EleonoraChiapparini, LuisaBalestri, PaoloMalandrini, AlessandroArnoldi, Maria TeresaPantaleoni, ChiaraMorandi, LuciaMora, Marina
- [20] A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-SaguenayCYTOGENETIC AND GENOME RESEARCH, 2017, 152 (01) : 16 - 21Zeng, HuiTang, Jian-GuangYang, Yi-FengTan, Zhi-PingTan, Jie-Qiong