共 27 条
- [1] Molecular Genetic Analysis of the Autosomal Recessive Non-Syndromic Inherited Retinitis PigmentosaCUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (04)Habib, Faiza论文数: 0 引用数: 0 h-index: 0机构: Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, Pakistan Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, PakistanYasin, Muhammad论文数: 0 引用数: 0 h-index: 0机构: Kohat Univ Sci & Technol, Dept Biotechnol & Genet Engn, Kohat, Pakistan Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, PakistanNamal, Areej论文数: 0 引用数: 0 h-index: 0机构: United Med & Dent Coll, Internal Med, Faisalabad, Pakistan Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, PakistanShaheryar, Abrar论文数: 0 引用数: 0 h-index: 0机构: Univ Coll Med & Dent, Med, Lahore, Pakistan Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, PakistanNasir, Areej论文数: 0 引用数: 0 h-index: 0机构: Quaid E Azam Med Coll, Med, Bahawalpur, Pakistan Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, Pakistan论文数: 引用数: h-index:机构:Ndubuisi, Chinonso论文数: 0 引用数: 0 h-index: 0机构: Humboldt Pk Hlth, Family Med, Chicago, IL USA Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, PakistanAzam, Hiba论文数: 0 引用数: 0 h-index: 0机构: Univ Coll Med & Dent, Surg, Lahore, Pakistan Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, PakistanSajid, Muhammad论文数: 0 引用数: 0 h-index: 0机构: Int Islamic Univ, Dept Biotechnol & Genet Engn, Islamabad, Pakistan Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, PakistanRasheed, Arsalan论文数: 0 引用数: 0 h-index: 0机构: Abdul Wali Khan Univ Mardan, Fac Life & Chem Sci, Dept Zool, Mardan, Pakistan Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, Pakistan
- [2] An update of common autosomal recessive non-syndromic hearing loss genes in Iranian populationINTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2017, 97 : 113 - 126论文数: 引用数: h-index:机构:Khaniani, Mahmoud Shekari论文数: 0 引用数: 0 h-index: 0机构: Tabriz Univ Med Sci, Neurosci Res Ctr, Tabriz, Iran Tabriz Univ Med Sci, Neurosci Res Ctr, Tabriz, Iran论文数: 引用数: h-index:机构:Farbodnia, Mina论文数: 0 引用数: 0 h-index: 0机构: Saba Univ, Dept Cellular & Mol Biol, Fac Sci, Orumiyeh, Iran Tabriz Univ Med Sci, Neurosci Res Ctr, Tabriz, IranDerakhshan, Sima Mansoori论文数: 0 引用数: 0 h-index: 0机构: Tabriz Univ Med Sci, Neurosci Res Ctr, Tabriz, Iran Tabriz Univ Med Sci, Dept Med Genet, Fac Med, Tabriz, Iran Tabriz Univ Med Sci, Neurosci Res Ctr, Tabriz, Iran
- [3] Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a middle eastern populationJOURNAL OF INVESTIGATIVE DERMATOLOGY, 2018, 138 (05) : S48 - S48Mohamad, J.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Med Ctr & Sch Med, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelSamuelov, L.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Med Ctr & Sch Med, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelMalchin, N.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Med Ctr & Sch Med, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelTiaber, S.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Med Ctr & Sch Med, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelRabinowitz, T.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelBitterman-Deutsch, O.论文数: 0 引用数: 0 h-index: 0机构: Nahariya Hosp, Hazafon, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelMolho-Pessach, V.论文数: 0 引用数: 0 h-index: 0机构: Hadassah Med Ctr, Yerushalayim, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelCohen-Barak, E.论文数: 0 引用数: 0 h-index: 0机构: Haemek Med Ctr, Hazafon, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelBach, G.论文数: 0 引用数: 0 h-index: 0机构: Hadassah Med Ctr, Yerushalayim, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelGarty, B.论文数: 0 引用数: 0 h-index: 0机构: Schneider Med Ctr, Hamerkaz, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelBergman, R.论文数: 0 引用数: 0 h-index: 0机构: Rambam Med Ctr, Hefa, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelHarel, A.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Med Ctr & Sch Med, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelNanda, A.论文数: 0 引用数: 0 h-index: 0机构: Asad Al Hamad Dermatol Ctr, Al Jahra, Kuwait Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelLestringant, G.论文数: 0 引用数: 0 h-index: 0机构: Tawam Univ Hosp, Dubai, U Arab Emirates Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelMcGrath, J.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, London, England Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelShalev, S.论文数: 0 引用数: 0 h-index: 0机构: Haemek Med Ctr, Hazafon, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelShomron, N.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelMashiach, J.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Med Ctr & Sch Med, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelEskin-Schwartz, M.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Med Ctr & Sch Med, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelSarig, O.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Med Ctr & Sch Med, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, IsraelSprecher, E.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Med Ctr & Sch Med, Tel Aviv, Israel Tel Aviv Med Ctr & Sch Med, Tel Aviv, Israel
- [4] A novel electrocardiographic phenotype identifies a new clinical form of autosomal dominant arrhythmogenic right ventricular cardiomyopathyEUROPEAN HEART JOURNAL, 2000, 21 : 386 - 386Norman, M论文数: 0 引用数: 0 h-index: 0机构: St George Hosp, Sch Med, Dept Cardiol Sci, London SW17 0RE, EnglandLongley, M论文数: 0 引用数: 0 h-index: 0机构: St George Hosp, Sch Med, Dept Cardiol Sci, London SW17 0RE, EnglandSeldon, M论文数: 0 引用数: 0 h-index: 0机构: St George Hosp, Sch Med, Dept Cardiol Sci, London SW17 0RE, EnglandHodkinson, K论文数: 0 引用数: 0 h-index: 0机构: St George Hosp, Sch Med, Dept Cardiol Sci, London SW17 0RE, EnglandConnors, S论文数: 0 引用数: 0 h-index: 0机构: St George Hosp, Sch Med, Dept Cardiol Sci, London SW17 0RE, EnglandMcKenna, WJ论文数: 0 引用数: 0 h-index: 0机构: St George Hosp, Sch Med, Dept Cardiol Sci, London SW17 0RE, EnglandThierfleder, L论文数: 0 引用数: 0 h-index: 0机构: St George Hosp, Sch Med, Dept Cardiol Sci, London SW17 0RE, England
- [5] Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern populationEXPERIMENTAL DERMATOLOGY, 2021, 30 (09) : 1290 - 1297Mohamad, Janan论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Pediat Dermatol Unit, Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelSamuelov, Liat论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Pediat Dermatol Unit, Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelMalchin, Natalia论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Pediat Dermatol Unit, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelRabinowitz, Tom论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelAssaf, Sari论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Pediat Dermatol Unit, Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelMalki, Liron论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Pediat Dermatol Unit, Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelMalovitski, Kiril论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Pediat Dermatol Unit, Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelIsraeli, Shirli论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Pediat Dermatol Unit, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelGrafi-Cohen, Meital论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Pediat Dermatol Unit, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelBitterman-Deutsch, Ora论文数: 0 引用数: 0 h-index: 0机构: Galilee Med Ctr, Dermatol Clin, Nahariyya, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelMolho-Pessach, Vered论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Dept Dermatol, Hadassah Med Ctr, Pediat Dermatol Serv,Fac MEd, Jerusalem, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelCohen-Barak, Eran论文数: 0 引用数: 0 h-index: 0机构: Haemek Med Ctr, Dept Dermatol, Afula, Israel Technion, Bruce & Ruth Rappaprt Fac Med, Haifa, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelBach, Gideon论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ Hosp, Dept Human Genet, Jerusalem, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelGarty, Ben Zion论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Schneider Childrens Med Ctr, Petah Tiqwa, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelBergman, Reuven论文数: 0 引用数: 0 h-index: 0机构: Rambam Med Ctr, Dept Dermatol, Haifa, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelHarel, Avikam论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Pediat Dermatol Unit, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelNanda, Arti论文数: 0 引用数: 0 h-index: 0机构: Al Sabah Hosp, Asad Al Hamad Dermatol Ctr, Surra, Kuwait Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelLestringant, Giles G.论文数: 0 引用数: 0 h-index: 0机构: British Minist Def, London, England Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel论文数: 引用数: h-index:机构:Shalev, Stavit论文数: 0 引用数: 0 h-index: 0机构: Haemek Med Ctr, Inst Human Genet, Afula, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelShomron, Noam论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelMashiah, Jacob论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Pediat Dermatol Unit, Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelEskin-Schwartz, Marina论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Fac Hlth Sci, Genet Inst, Soroka Univ,Med Ctr, Beer Sheva, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelSprecher, Eli论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Pediat Dermatol Unit, Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelSarig, Ofer论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Pediat Dermatol Unit, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel
- [6] First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing LossTURKISH ARCHIVES OF OTORHINOLARYNGOLOGY, 2019, 57 (03) : 140 - 148Ozyilmaz, Berk论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, Turkey Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, TurkeyMercan, Gul Caner论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Tepecik Training & Res Hosp, Dept Otolaryngol, Izmir, Turkey Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, TurkeyKirbiyik, Ozgur论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, Turkey Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, TurkeyOzdemir, Taha Resid论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, Turkey Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, TurkeyOzkara, Samira论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Tepecik Training & Res Hosp, Dept Otolaryngol, Izmir, Turkey Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, TurkeyKaya, Ozge Ozer论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, Turkey Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, TurkeyKutbay, Yasar Bekir论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, Turkey Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, TurkeyErdogan, Kadri Murat论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, Turkey Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, TurkeyGuvenc, Merve Saka论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, Turkey Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, TurkeyKoc, Altug论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, Turkey Univ Hlth Sci, Tepecik Training & Res Hosp, Genet Diag Ctr, Izmir, Turkey
- [7] Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A ReviewGENES, 2022, 13 (06)Ullah, Muhammad Ikram论文数: 0 引用数: 0 h-index: 0机构: Jouf Univ, Coll Appl Med Sci, Dept Clin Lab Sci, Sakaka 75471, Aljouf, Saudi Arabia Jouf Univ, Coll Appl Med Sci, Dept Clin Lab Sci, Sakaka 75471, Aljouf, Saudi Arabia
- [8] Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in MediterraneansHUMAN MOLECULAR GENETICS, 1997, 6 (09) : 1605 - 1609Zelante, L论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104Gasparini, P论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104Estivill, X论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104Melchionda, S论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104DAgruma, L论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104Govea, N论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104Mila, M论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104DellaMonica, M论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104Lutfi, J论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104Shohat, M论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104Mansfield, E论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104Delgrosso, K论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104Rappaport, E论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104Surrey, S论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104Fortina, P论文数: 0 引用数: 0 h-index: 0机构: CHILDRENS HOSP,ABRAMSON PEDIAT RES CTR 310C,PHILADELPHIA,PA 19104
- [9] Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 VariantsJOURNAL OF CLINICAL MEDICINE, 2022, 11 (07)Kraatari-Tiri, Minna论文数: 0 引用数: 0 h-index: 0机构: Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, Finland Oulu Univ Hosp, Med Res Ctr Oulu, PEDEGO Res Unit, Oulu 90014, Finland Univ Oulu, Oulu 90014, Finland Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, FinlandHaanpaa, Maria K.论文数: 0 引用数: 0 h-index: 0机构: Turku Univ Hosp, Dept Clin Genet, Turku 20521, Finland Turku Univ Hosp, Dept Genom, Turku 20521, Finland Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, FinlandWillberg, Tytti论文数: 0 引用数: 0 h-index: 0机构: Turku Univ Hosp, Dept Otorhinolaryngol, Turku 20521, Finland Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, FinlandPohjola, Pia论文数: 0 引用数: 0 h-index: 0机构: Turku Univ Hosp, Dept Genom, Turku 20521, Finland Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, FinlandKeski-Filppula, Riikka论文数: 0 引用数: 0 h-index: 0机构: Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, Finland Oulu Univ Hosp, Med Res Ctr Oulu, PEDEGO Res Unit, Oulu 90014, Finland Univ Oulu, Oulu 90014, Finland Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, FinlandKuismin, Outi论文数: 0 引用数: 0 h-index: 0机构: Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, Finland Oulu Univ Hosp, Med Res Ctr Oulu, PEDEGO Res Unit, Oulu 90014, Finland Univ Oulu, Oulu 90014, Finland Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, FinlandMoilanen, Jukka S.论文数: 0 引用数: 0 h-index: 0机构: Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, Finland Oulu Univ Hosp, Med Res Ctr Oulu, PEDEGO Res Unit, Oulu 90014, Finland Univ Oulu, Oulu 90014, Finland Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, FinlandHakli, Sanna论文数: 0 引用数: 0 h-index: 0机构: Oulu Univ Hosp, Med Res Ctr Oulu, PEDEGO Res Unit, Oulu 90014, Finland Univ Oulu, Oulu 90014, Finland Oulu Univ Hosp, Dept Otorhinolaryngol, Oulu 90029, Finland Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, FinlandRahikkala, Elisa论文数: 0 引用数: 0 h-index: 0机构: Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, Finland Oulu Univ Hosp, Med Res Ctr Oulu, PEDEGO Res Unit, Oulu 90014, Finland Univ Oulu, Oulu 90014, Finland Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, Finland
- [10] Screening of WFS1 in autosomal recessive and dominant optic atrophies: mutation findings in non-syndromic optic atrophy and assessment of clinical severityINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)Grenier, Joanna论文数: 0 引用数: 0 h-index: 0机构: CHU GUI DE CHAULAC, Montpellier, France CHU GUI DE CHAULAC, Montpellier, FranceDaien, Vincent论文数: 0 引用数: 0 h-index: 0机构: CHU GUI DE CHAULAC, Montpellier, France CHU GUI DE CHAULAC, Montpellier, FranceHamel, Christian P.论文数: 0 引用数: 0 h-index: 0机构: CHU GUI DE CHAULAC, Montpellier, France CHU GUI DE CHAULAC, Montpellier, France