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- [1] Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous familiesMOLECULAR BIOLOGY REPORTS, 2023, 50 (12) : 9963 - 9970Ali, Amjad论文数: 0 引用数: 0 h-index: 0机构: Quaid i Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Quaid i Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanBilal, Muhammad论文数: 0 引用数: 0 h-index: 0机构: Quaid i Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Quaid i Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanMis, Emily Kathryn论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Pediat, Pediat Genome Discovery Program, New Haven, CT USA Quaid i Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanLakhani, Saquib Ali论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Pediat, Pediat Genome Discovery Program, New Haven, CT USA Quaid i Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan论文数: 引用数: h-index:机构:Ullah, Imran论文数: 0 引用数: 0 h-index: 0机构: Quaid i Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Quaid i Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan
- [2] Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous familiesMOLECULAR VISION, 2017, 23Ullah, Asmat论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanUmair, Muhammad论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanYousaf, Maryam论文数: 0 引用数: 0 h-index: 0机构: Univ Azad Jammu & Kashmir, Dept Chem, Muzaffarabad, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanKhan, Sher Alam论文数: 0 引用数: 0 h-index: 0机构: KUST, Kohat, Khyber Pakhtunk, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanNazim-ud-Din, Muhammad论文数: 0 引用数: 0 h-index: 0机构: Univ Azad Jammu & Kashmir, Dept Biotechnol, Muzaffarabad, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanShah, Khadim论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanAhmad, Farooq论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanAzeem, Zahid论文数: 0 引用数: 0 h-index: 0机构: Univ Azad Jammu & Kashmir, Dept Chem, Muzaffarabad, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanAli, Ghazanfar论文数: 0 引用数: 0 h-index: 0机构: Univ Azad Jammu & Kashmir, Dept Biotechnol, Muzaffarabad, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanAlhaddad, Bader论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanRafique, Afzal论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanJan, Abid论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan KUST, Kohat, Khyber Pakhtunk, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanHaack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanMeitinger, Thomas论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanGhous, Tahseen论文数: 0 引用数: 0 h-index: 0机构: Univ Azad Jammu & Kashmir, Dept Chem, Muzaffarabad, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan论文数: 引用数: h-index:机构:
- [3] Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani PedigreesGENES, 2023, 14 (02)Rao, Ali Raza论文数: 0 引用数: 0 h-index: 0机构: Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, Pakistan Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, PakistanNazir, Aamir论文数: 0 引用数: 0 h-index: 0机构: Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, PakistanImtiaz, Samina论文数: 0 引用数: 0 h-index: 0机构: Univ Karachi, Dept Genet, Karachi 75270, Pakistan Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, PakistanParacha, Sohail Aziz论文数: 0 引用数: 0 h-index: 0机构: Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, PakistanWaryah, Yar Muhammad论文数: 0 引用数: 0 h-index: 0机构: Sindh Inst Ophthalmol & Visual Sci, Sci & Ophthalm Res Lab, Hyderabad 71000, Pakistan Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, PakistanUjjan, Ikram Din论文数: 0 引用数: 0 h-index: 0机构: Liaquat Univ Med & Hlth Sci, Dept Pathol, Jamshoro 76090, Pakistan Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, PakistanAnwar, Ijaz论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Jules Gonin Eye Hosp, Dept Ophthalmol, Fdn Asile Aveugles, CH-1004 Lausanne, Switzerland Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, Pakistan论文数: 引用数: h-index:机构:Santoni, Federico A.论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland Univ Hosp Lausanne, Dept Endocrinol Diabet & Metab, CH-1011 Lausanne, Switzerland Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, PakistanShah, Inayat论文数: 0 引用数: 0 h-index: 0机构: Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, PakistanGul, Khitab论文数: 0 引用数: 0 h-index: 0机构: Univ Karachi, Dept Genet, Karachi 75270, Pakistan Mohammad Ali Jinnah Univ, Fac Life Sci, Dept Biosci, Karachi 75400, Pakistan Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, PakistanBaig, Hafiz Muhammad Azhar论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Jules Gonin Eye Hosp, Dept Ophthalmol, Fdn Asile Aveugles, CH-1004 Lausanne, Switzerland Islamia Univ Bahawalpur, Inst Biochem Biotechnol & Bioinformat, Dept Biotechnol, Bahawalpur 63080, Pakistan Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, PakistanWaryah, Ali Muhammad论文数: 0 引用数: 0 h-index: 0机构: Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, Pakistan Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, PakistanAntonarakis, Stylianos E.论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland iGE3 Inst Genet & Genom Geneva, CH-1211 Geneva, Switzerland Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, PakistanAnsar, Muhammad论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Jules Gonin Eye Hosp, Dept Ophthalmol, Fdn Asile Aveugles, CH-1004 Lausanne, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland Dow Univ Hlth Sci, Adv Mol Genet & Genom Dis Res & Treatment Ctr, Karachi 74200, Pakistan Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro 76090, Pakistan
- [4] Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl SyndromeGENES, 2023, 14 (05)Nawaz, Hamed论文数: 0 引用数: 0 h-index: 0机构: Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, Pakistan Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, PakistanMujahid论文数: 0 引用数: 0 h-index: 0机构: Directorate Gen Livestock & Dairy Dev, Ctr Anim Nutr, Peshawar 25000, Pakistan Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, Pakistan论文数: 引用数: h-index:机构:Bibi, Farhana论文数: 0 引用数: 0 h-index: 0机构: Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, Pakistan Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, PakistanWaqas, Ahmed论文数: 0 引用数: 0 h-index: 0机构: Univ Educ, Dept Zool, Div Sci & Technol, Lahore 54782, Pakistan Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, PakistanBari, Abdul论文数: 0 引用数: 0 h-index: 0机构: Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, Pakistan Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, PakistanFardous论文数: 0 引用数: 0 h-index: 0机构: Kohat Univ Sci & Technol KUST, Dept Med Lab Technol MLT, Kohat 26000, Pakistan Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, PakistanKhan, Niamatullah论文数: 0 引用数: 0 h-index: 0机构: Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, Pakistan Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, Pakistan论文数: 引用数: h-index:机构:Khan, Amjad论文数: 0 引用数: 0 h-index: 0机构: Univ Lakki Marwat, Fac Sci, Dept Biol Sci Zool, Lakki Marwat 28420, Pakistan Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, PakistanParacha, Sohail Aziz论文数: 0 引用数: 0 h-index: 0机构: KMU Inst Med Sci KIMS, Dept Anat, Kohat 26000, Pakistan Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, PakistanAlam, Qamre M.论文数: 0 引用数: 0 h-index: 0机构: ExpressMed Labs, Mol Genom & Precis Med, Block Zinj, Manama 359, Bahrain Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, Pakistan论文数: 引用数: h-index:机构:Rafeeq, Misbahuddin论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Fac Med, Dept Pharmacol, Jeddah 21589, Saudi Arabia Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, Pakistan论文数: 引用数: h-index:机构:Ul Haq, Fayaz论文数: 0 引用数: 0 h-index: 0机构: King Saud Bin Abdulaziz Univ Hlth Sci, Coll Appl Med Sci, Dept Radiol Sci, Riyadh 12271, Saudi Arabia Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, PakistanKhan, Shazia论文数: 0 引用数: 0 h-index: 0机构: Hafeez Inst Med Sci, Islamabad 44000, Pakistan Int Islamic Univ Islamabad, Dept Biol Sci, H-10, Islamabad 44000, Pakistan Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, PakistanMahmood, Arif论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet, Changsha 410078, Peoples R China Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, Pakistan论文数: 引用数: h-index:机构:Umair, Muhammad论文数: 0 引用数: 0 h-index: 0机构: King Saud Bin Abdulaziz Univ Hlth Sci, Med Genom Res Dept, King Abdullah Int Med Res Ctr KAIMRC, Minist Natl Guard Hlth Affairs MNGH, Riyadh 12271, Saudi Arabia Univ Management & Technol UMT, Sch Sci, Dept Life Sci, Lahore 14611, Pakistan Kohat Univ Sci & Technol KUST, Dept Biotechnol & Genet Engn, Kohat 26000, Pakistan
- [5] Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genesCLINICAL GENETICS, 2019, 95 (03) : 384 - 397Mary, Laura论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Univ Strasbourg, Fac Med FMTS, Lab Genet Med, UMR S INSERM U1112,IGMA, Strasbourg, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France论文数: 引用数: h-index:机构:Stoetzel, Corinne论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Fac Med FMTS, Lab Genet Med, UMR S INSERM U1112,IGMA, Strasbourg, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceAntin, Manuela论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceLeuvrey, Anne论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceNourisson, Elsa论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceAlanio-Detton, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Hop Maison Blanche, Ctr Depistage Antenatal, Gynecol Obstet, Reims, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceAntal, Maria C.论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Inst Histol, Icube, Strasbourg, France Hop Univ Strasbourg, Serv Pathol, UF6349 Foetopathol, Strasbourg, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceAttie-Bitach, Tania论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Inst IMAGINE, INSERM U1163, Paris, France Hop Necker Enfants Malad, AP HP, Serv Histol Embryol Cytogenet, Paris, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceBouvagnet, Patrice论文数: 0 引用数: 0 h-index: 0机构: Hop Civils Lyon, Malformat Cardiaques Congenitale, Lab Cardiogenet, Lyon, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceBouvier, Raymonde论文数: 0 引用数: 0 h-index: 0机构: Hop Civils Lyon, Ctr Hosp Est, Dept Pathol, Lyon, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceBuenerd, Annie论文数: 0 引用数: 0 h-index: 0机构: Hop Civils Lyon, Ctr Hosp Est, Dept Pathol, Lyon, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceClemenson, Alix论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Serv Anat & Cytol Pathol, St Etienne, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceDevisme, Louise论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lille, Inst Anatomopathol, Ctr Biol Pathol, Lille, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceGasser, Bernard论文数: 0 引用数: 0 h-index: 0机构: GHR Mulhouse Sud Alsace, Lab Pathol, Mulhouse, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France论文数: 引用数: h-index:机构:Guimiot, Fabien论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, AP HP, Unite Fonct Foetopathol, Dept Genet, Paris, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceVan Kien, Philippe Khau论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nimes, Unite Genet Med & Cytogenet, Nimes, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceLeroy, Brigitte论文数: 0 引用数: 0 h-index: 0机构: CHI Poissy St Germain En Laye, Serv Anat Pathol, Poissy, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceLoget, Philippe论文数: 0 引用数: 0 h-index: 0机构: Univ Rennes 1, Serv Anat Pathol, Hop Pontchaillou, Rennes, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceMartinovic, Jelena论文数: 0 引用数: 0 h-index: 0机构: Hop Antoine Beclere, AP HP, Unite Foetopathol, Clamart, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FrancePelluard, Fanny论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Bordeaux, Serv Anat Cytol Pathol, Bordeaux, France Univ Bordeaux, INSERM UMR1053, Bordeaux Res Translat Oncol, BaRITOn, Bordeaux, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FrancePerez, Marie-Josee论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ, Unite Foetopathol, Serv Genet Med, Montpellier, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FrancePetit, Florence论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lille, Clin Genet Guy Fontaine, Lille, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FrancePinson, Lucile论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Reg Univ Montpellier, Dept Genet Med, Montpellier, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceRooryck-Thambo, Caroline论文数: 0 引用数: 0 h-index: 0机构: Univ Bordeaux, MRGM INSERM U1211, CHU Bordeaux, Serv Genet Med, Bordeaux, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FrancePoch, Olivier论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, CNRS, Complex Syst & Translat Bioinformat, ICube, Illkirch Graffenstaden, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceDollfus, Helene论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Fac Med FMTS, Lab Genet Med, UMR S INSERM U1112,IGMA, Strasbourg, France Hop Univ Strasbourg, Serv Genet Med, IGMA, Strasbourg, France Hop Univ Strasbourg, Ctr Affect Rares Genet Ophtalmol, FSMR SENSGENE, Strasbourg, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceSchaefer, Elise论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Fac Med FMTS, Lab Genet Med, UMR S INSERM U1112,IGMA, Strasbourg, France Hop Univ Strasbourg, Serv Genet Med, IGMA, Strasbourg, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, FranceMuller, Jean论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Univ Strasbourg, Fac Med FMTS, Lab Genet Med, UMR S INSERM U1112,IGMA, Strasbourg, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France
- [6] New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mappingMOLECULAR VISION, 2010, 16 (17): : 137 - 143Pereiro, Ines论文数: 0 引用数: 0 h-index: 0机构: Univ Vigo, Fac Biol, Pontevedra 36310, Spain Univ Vigo, Fac Biol, Pontevedra 36310, SpainValverde, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Vigo, Fac Biol, Pontevedra 36310, Spain Univ Vigo, Fac Biol, Pontevedra 36310, SpainPineiro-Gallego, Teresa论文数: 0 引用数: 0 h-index: 0机构: Univ Vigo, Fac Biol, Pontevedra 36310, Spain Univ Vigo, Fac Biol, Pontevedra 36310, SpainBaiget, Montserrat论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Barcelona, Spain Univ Vigo, Fac Biol, Pontevedra 36310, SpainBorrego, Salud论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Rocio, Seville, Spain Univ Vigo, Fac Biol, Pontevedra 36310, SpainAyuso, Carmen论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz, E-28040 Madrid, Spain Univ Vigo, Fac Biol, Pontevedra 36310, SpainSearby, Charles论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Howard Hughes Med Inst, Iowa City, IA 52242 USA Univ Vigo, Fac Biol, Pontevedra 36310, Spain论文数: 引用数: h-index:机构:
- [7] BARDET-BIEDL SYNDROMEAMERICAN JOURNAL OF OPHTHALMOLOGY, 1983, 95 (06) : 855 - 855BARONA, CFV论文数: 0 引用数: 0 h-index: 0PACIUC, M论文数: 0 引用数: 0 h-index: 0
- [8] BARDET-BIEDL SYNDROMEJOURNAL OF EVOLUTION OF MEDICAL AND DENTAL SCIENCES-JEMDS, 2016, 5 (101): : 7448 - 7449Shah, Jayashree S.论文数: 0 引用数: 0 h-index: 0机构: Sri Siddhartha Med Coll, Dept Ophthalmol, Tumkur, India Sri Siddhartha Med Coll, Dept Ophthalmol, Tumkur, IndiaSwapnika, Satya Y.论文数: 0 引用数: 0 h-index: 0机构: Sri Siddhartha Med Coll, Dept Ophthalmol, Tumkur, India Sri Siddhartha Med Coll, Dept Ophthalmol, Tumkur, IndiaSingh, Shruti论文数: 0 引用数: 0 h-index: 0机构: Sri Siddhartha Med Coll, Dept Ophthalmol, Tumkur, India Sri Siddhartha Med Coll, Dept Ophthalmol, Tumkur, India
- [9] Bardet-Biedl syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (01) : 8 - 13Forsythe, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, EnglandBeales, Philip L.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England
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