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- [32] Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 geneEUROPEAN JOURNAL OF MEDICAL GENETICS, 2016, 59 (10) : 507 - 511Ratbi, Ilham论文数: 0 引用数: 0 h-index: 0机构: Mohammed V Univ Rabat, Fac Med & Pharm, Ctr Genom Humaine, Rabat 10100, Morocco Inst Natl Hyg, Dept Genet Med, BP 769, Rabat 10090, Morocco Mohammed V Univ Rabat, Fac Med & Pharm, Ctr Genom Humaine, Rabat 10100, MoroccoJaouad, Imane Cherkaoui论文数: 0 引用数: 0 h-index: 0机构: Mohammed V Univ Rabat, Fac Med & Pharm, Ctr Genom Humaine, Rabat 10100, Morocco Inst Natl Hyg, Dept Genet Med, BP 769, Rabat 10090, Morocco Mohammed V Univ Rabat, Fac Med & Pharm, Ctr Genom Humaine, Rabat 10100, MoroccoElorch, Hamza论文数: 0 引用数: 0 h-index: 0机构: CHU Rabat, Hop Specialites, Serv Ophtalmol B, Rabat, Morocco Mohammed V Univ Rabat, Fac Med & Pharm, Ctr Genom Humaine, Rabat 10100, MoroccoAl-Sheqaih, Nada论文数: 0 引用数: 0 h-index: 0机构: Med St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England Univ Manchester, Inst Human Dev, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England Mohammed V Univ Rabat, Fac Med & Pharm, Ctr Genom Humaine, Rabat 10100, MoroccoElalloussi, Mustapha论文数: 0 引用数: 0 h-index: 0机构: Univ Mohammed 5, Fac Med Dent, Dept Pedodont Prevent, BP 6212 Madinat Al Irfane, Rabat 10100, Morocco Mohammed V Univ Rabat, Fac Med & Pharm, Ctr Genom Humaine, Rabat 10100, MoroccoLyahyai, Jaber论文数: 0 引用数: 0 h-index: 0机构: Mohammed V Univ Rabat, Fac Med & Pharm, Ctr Genom Humaine, Rabat 10100, Morocco Mohammed V Univ Rabat, Fac Med & Pharm, Ctr Genom Humaine, Rabat 10100, MoroccoBerraho, Amina论文数: 0 引用数: 0 h-index: 0机构: CHU Rabat, Hop Specialites, Serv Ophtalmol B, Rabat, Morocco Univ Manchester, Inst Human Dev, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England Mohammed V Univ Rabat, Fac Med & Pharm, Ctr Genom Humaine, Rabat 10100, MoroccoNewman, William G.论文数: 0 引用数: 0 h-index: 0机构: Med St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England Mohammed V Univ Rabat, Fac Med & Pharm, Ctr Genom Humaine, Rabat 10100, MoroccoSefiani, Abdelaziz论文数: 0 引用数: 0 h-index: 0机构: Mohammed V Univ Rabat, Fac Med & Pharm, Ctr Genom Humaine, Rabat 10100, Morocco Inst Natl Hyg, Dept Genet Med, BP 769, Rabat 10090, Morocco Mohammed V Univ Rabat, Fac Med & Pharm, Ctr Genom Humaine, Rabat 10100, Morocco
- [33] A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansionAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (02) : 330 - 336论文数: 引用数: h-index:机构:Staretz-Chacham, Orna论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Div Pediat, Metab Unit, Soroka Med Ctr, Beer Sheva, Israel Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Morris Kahn Lab Human Genet, Beer Sheva, IsraelWormser, Ohad论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Morris Kahn Lab Human Genet, Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Beer Sheva, Israel Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Morris Kahn Lab Human Genet, Beer Sheva, Israel论文数: 引用数: h-index:机构:Saada, Ann论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Dept Genet Metab Dis, Jerusalem, Israel Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Morris Kahn Lab Human Genet, Beer Sheva, IsraelKadir, Rotem论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Morris Kahn Lab Human Genet, Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Beer Sheva, Israel Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Morris Kahn Lab Human Genet, Beer Sheva, IsraelBirk, Ohad S.论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Morris Kahn Lab Human Genet, Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Beer Sheva, Israel Soroka Med Ctr, Genet Inst, Beer Sheva, Israel Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Morris Kahn Lab Human Genet, Beer Sheva, Israel
- [34] Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and NephrocalcinosisJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2014, 99 (11): : E2451 - E2456Rajagopal, Abbhirami论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABraslavsky, Debora论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Hosp Ninos Dr Ricardo Gutierrez, CONICET FEI Div Endocrinol, Ctr Invest Endocrinol Dr Cesar Bergada, Buenos Aires, DF, Argentina Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALu, James T.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Struct & Computat Biol & Mol Biophys, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAKleppe, Soledad论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Unidad Metab, Buenos Aires, DF, Argentina Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAClement, Florencia论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, CONICET FEI Div Endocrinol, Ctr Invest Endocrinol Dr Cesar Bergada, Buenos Aires, DF, Argentina Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USACassinelli, Hamilton论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, CONICET FEI Div Endocrinol, Ctr Invest Endocrinol Dr Cesar Bergada, Buenos Aires, DF, Argentina Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALiu, David S.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALiern, Jose Miguel论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Unidad Nefrol, Buenos Aires, DF, Argentina Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAVallejo, Graciela论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Unidad Nefrol, Buenos Aires, DF, Argentina Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABergada, Ignacio论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, CONICET FEI Div Endocrinol, Ctr Invest Endocrinol Dr Cesar Bergada, Buenos Aires, DF, Argentina Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAGibbs, Richard A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USACampeau, Phillipe M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALee, Brendan H.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Howard Hughes Med Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
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- [39] A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentationsALLERGOLOGIA ET IMMUNOPATHOLOGIA, 2021, 49 (04) : 91 - 97Shafeghat, Melika论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, Iran Universal Sci Educ & Res Network USERN, Network Immun Infect Malignancy & Autoimmun NIIMA, Tehran, Iran Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, IranEsmaeilzadeh, Hossein论文数: 0 引用数: 0 h-index: 0机构: Shiraz Univ Med Sci, Allergy Res Ctr, Shiraz, Iran Shiraz Univ Med Sci, Namazi Hosp, Dept Allergy & Clin Immunol, Imam Hussain Sq,Zand St, Shiraz 7134845794, Iran Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, IranSadeghalvad, Mona论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Sch Med, Dept Immunol, Tehran, Iran Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, IranRayzan, Elham论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, Iran Universal Sci Educ & Res Network USERN, Int Hematol Oncol Pediat Experts IHOPE, Tehran, Iran Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, IranZoghi, Samaneh论文数: 0 引用数: 0 h-index: 0机构: Universal Sci Educ & Res Network USERN, Network Immun Infect Malignancy & Autoimmun NIIMA, Tehran, Iran Ludwig Boltzmann Inst Rare & Undiagnosed Dis, Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, Vienna, Austria St Anna Childrens Canc Res Inst CCRI, Vienna, Austria Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, IranShahkarami, Sepideh论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Dr Von Hauner Childrens Hosp, Dept Pediat, Munich, Germany Universal Sci Educ & Res Network USERN, Med Genet Network MeGeNe, Munich, Germany Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, Iran论文数: 引用数: h-index:机构:Krolo, Ana论文数: 0 引用数: 0 h-index: 0机构: Ludwig Boltzmann Inst Rare & Undiagnosed Dis, Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, Vienna, Austria St Anna Childrens Canc Res Inst CCRI, Vienna, Austria Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, Iran论文数: 引用数: h-index:机构:Rezaei, Nima论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, Iran Universal Sci Educ & Res Network USERN, Network Immun Infect Malignancy & Autoimmun NIIMA, Tehran, Iran Univ Tehran Med Sci, Sch Med, Dept Immunol, Tehran, Iran Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, Iran
- [40] Infantile Hypercalcemia Type 2 Due to Novel Mutation in SLC34A1 GeneHORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 150 - 150Oner, Ganimet论文数: 0 引用数: 0 h-index: 0机构: Gazi Univ, Fac Med, Hosp Pediat Endocrinol, Ankara, Turkey Gazi Univ, Fac Med, Hosp Pediat Endocrinol, Ankara, TurkeyDoger, Esra论文数: 0 引用数: 0 h-index: 0机构: Gazi Univ, Fac Med, Hosp Pediat Endocrinol, Ankara, Turkey Gazi Univ, Fac Med, Hosp Pediat Endocrinol, Ankara, TurkeyCeylaner, Serdar论文数: 0 引用数: 0 h-index: 0机构: INTERGEN Genet & Rare Dis Diag Res & Applicat Ctr, Ankara, Turkey Gazi Univ, Fac Med, Hosp Pediat Endocrinol, Ankara, TurkeyKayhan, Gulsum论文数: 0 引用数: 0 h-index: 0机构: Gazi Univ, Fac Med, Hosp Med Genet, Ankara, Turkey Gazi Univ, Fac Med, Hosp Pediat Endocrinol, Ankara, TurkeyBideci, Aysun论文数: 0 引用数: 0 h-index: 0机构: Gazi Univ, Fac Med, Hosp Pediat Endocrinol, Ankara, Turkey Gazi Univ, Fac Med, Hosp Pediat Endocrinol, Ankara, TurkeyCamurdan, Mahmut Orhun论文数: 0 引用数: 0 h-index: 0机构: Gazi Univ, Fac Med, Hosp Pediat Endocrinol, Ankara, Turkey Gazi Univ, Fac Med, Hosp Pediat Endocrinol, Ankara, Turkey