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A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism due to a Novel Homozygous Variant in the SCNN1B Gene 一种罕见的先天性失盐综合征病因：由于SCNN1B基因新型纯合变异导致的假性醛固酮减少症病例的临床管理 Singin, Berna; Donbaloglu, Zeynep; Cetiner, Ebru Barsal; Cetin, Kursat; Zarif, Nurten Ozkan; Celik, Kiymet; Mihci, Ercan; Clark, Ozden Altiok; Tuhan, Hale; Parlak, Mesut 分享 收藏
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Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism Ehmke, Nadja; Cusmano-Ozog, Kristina; Koenig, Rainer; Holtgrewee, Manuel; Nur, Banu; Mihci, Ercan; Babcock, Holly; Gonzaga-Jauregui, Claudia; Overton, John D.; Xiao, Jing; Martinez, Ariel F. K.; Muenke, Maximilian; Balzer, Alexander; Jochimm, Judith; El Choubassi, Naji; Fischer-Zirnsak, Bjoern; Huber, Celine; Kornak, Uwe; Elsea, Sarah H.; Cormier-Daire, Valerie; Ferreira, Carlos R. 分享 收藏
A clinical scoring system for congenital contractural arachnodactyly Meerschaut, Ilse; De Coninck, Shana; Steyaert, Wouter; Barnicoat, Angela; Bayat, Allan; Benedicenti, Francesco; Berland, Siren; Blair, Edward M.; Breckpot, Jeroen; De Burca, Anna; Destree, Anne; Garcia-Minaur, Sixto; Green, Andrew J.; Hanna, Bernadette C.; Keymolen, Kathelijn; Koopmans, Marije; Lederer, Damien; Lees, Melissa; Longman, Cheryl; Lynch, Sally Ann; Male, Alison M.; McKenzie, Fiona; Migeotte, Isabelle; Mihci, Ercan; Nur, Banu; Petit, Florence; Piard, Juliette; Plasschaert, Frank S.; Rauch, Anita; Ribai, Pascale; Pacheco, Iratxe Salcedo; Stanzial, Franco; Stolte-Dijkstra, Irene; Valenzuela, Irene; Varghese, Vinod; Vasudevan, Pradeep C.; Wakeling, Emma; Wallgren-Pettersson, Carina; Coucke, Paul; De Paepe, Anne; De Wolf, Daniel; Symoens, Sofie; Callewaert, Bert 分享 收藏
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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects Dubail, Johanne; Huber, Celine; Chantepie, Sandrine; Sonntag, Stephan; Tuysuz, Beyhan; Mihci, Ercan; Gordon, Christopher T.; Steichen-Gersdorf, Elisabeth; Amiel, Jeanne; Nur, Banu; Stolte-Dijkstra, Irene; van Eerde, Albertien M.; van Gassen, Koen L.; Breugem, Corstiaan C.; Stegmann, Alexander; Lekszas, Caroline; Maroofian, Reza; Karimiani, Ehsan Ghayoor; Bruneel, Arnaud; Seta, Nathalie; Munnich, Arnold; Papy-Garcia, Dulce; De La Dure-Molla, Muriel; Cormier-Daire, Valerie 分享 收藏
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss Bademci, Guney; Abad, Clemer; Incesulu, Armagan; Rad, Abolfazl; Alper, Ozgul; Kolb, Susanne M.; Cengiz, Filiz B.; Diaz-Horta, Oscar; Silan, Fatma; Mihci, Ercan; Ocak, Emre; Najafi, Maryam; Maroofian, Reza; Yilmaz, Elanur; Nur, Banu G.; Duman, Duygu; Guo, Shengru; Sant, David W.; Wang, Gaofeng; Monje, Paula V.; Haaf, Thomas; Blanton, Susan H.; Vona, Barbara; Walz, Katherina; Tekin, Mustafa 分享 收藏
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies Acuna-Hidalgo, Rocio; Deriziotis, Pelagia; Steehouwer, Marloes; Gilissen, Christian; Graham, Sarah A.; van Dam, Sipko; Hoover-Fong, Julie; Telegrafi, Aida B.; Destree, Anne; Smigiel, Robert; Lambie, Lindsday A.; Kayserili, Hulya; Altunoglu, Umut; Lapi, Elisabetta; Uzielli, Maria Luisa; Aracena, Mariana; Nur, Banu G.; Mihci, Ercan; Moreira, Lilia M. A.; Ferreira, Viviane Borges; Horovitz, Dafne D. G.; da Rocha, Katia M.; Jezela-Stanek, Aleksandra; Brooks, Alice S.; Reutter, Heiko; Cohen, Julie S.; Fatemi, Ali; Smitka, Martin; Grebe, Theresa A.; Di Donato, Nataliya; Deshpande, Charu; Vandersteen, Anthony; Lourenco, Charles Marques; Dufke, Andreas; Rossier, Eva; Andre, Gwenaelle; Baumer, Alessandra; Spencer, Careni; McGaughran, Julie; Franke, Lude; Veltman, Joris A.; De Vries, Bert B. A.; Schinzel, Albert; Fisher, Simon E.; Hoischen, Alexander; van Bon, Bregje W. 分享 收藏
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey Akinci, Bans; Onay, Huseyin; Demir, Tevfik; Ozen, Samim; Kayserili, Hulya; Akinci, Gulcin; Nur, Banu; Tuysuz, Beyhan; Ozbek, Mehmet Nun; Gungor, Adem; Simsir, Ilgin Yildirim; Altay, Canan; Demir, Leyla; Simsek, Enver; Atmaca, Murat; Topaloglu, Haluk; Bilen, Habib; Atmaca, Hulusi; Atik, Tahir; Cavdar, Umit; Altunoglu, Umut; Aslanger, Ayca; Mihci, Ercan; Secil, Mustafa; Saygili, Fusun; Comlekci, Abdurrahman; Garg, Abhimanyu 分享 收藏
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Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel Mutations Pangrazio, Alessandra; Pusch, Michael; Caldana, Elena; Frattini, Annalisa; Lanino, Edoardo; Tamhankar, Parag M.; Phadke, Shubha; Meneses Lopez, Antonio Gonzalez; Orchard, Paul; Mihci, Ercan; Abinun, Mario; Wright, Michael; Vettenranta, Kim; Bariae, Ivo; Melis, Daniela; Tezcan, Ilhan; Baumann, Clarisse; Locatelli, Franco; Zecca, Marco; Horwitz, Edwin; Ben Mansour, Lamia Sfaihi; Van Roij, Mirjam; Vezzoni, Paolo; Villa, Anna; Sobacchi, Cristina 分享 收藏
Characterization of a Novel Alu-Alu Recombination-Mediated Genomic Deletion in the TCIRG1 Gene in Five Osteopetrotic Patients Pangrazio, Alessandra; Caldana, Maria Elena; Sobacchi, Cristina; Panaroni, Cristina; Susani, Lucia; Mihci, Ercan; Cavaliere, Maria Luigia; Giliani, Silvia; Villa, Anna; Frattini, Annalisa 分享 收藏
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis Frattini, A; Pangrazio, A; Susani, L; Sobacchi, C; Mirolo, M; Abinun, M; Andolina, M; Flanagan, A; Horwitz, EM; Mihci, E; Notarangelo, LD; Ramenghi, U; Teti, A; Van Hove, J; Vujic, D; Young, T; Albertini, A; Orchard, PJ; Vezzoni, P; Villa, A 分享 收藏
Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Hellemans, Jan; Simon, Marleen; Dheedene, Annelies; Alanay, Yasemin; Mihci, Ercan; Rifai, Laila; Sefiani, Abdelaziz; van Bever, Yolande; Meradji, Morteza; Superti-Furga, Andrea; Mortier, Geert 分享 收藏
SNP Array Mapping of Chromosome 20p Deletions: Genotypes, Phenotypes, and Copy Number Variation Kamath, Binita M.; Thiel, Brian D.; Gai, Xiaowu; Conlin, Laura K.; Munoz, Pedro S.; Glessner, Joseph; Clark, Dinah; Warthen, Daniel M.; Shaikh, Tamim H.; Mihci, Ercan; Piccoli, David A.; Grant, Struan F. A.; Hakonarson, Hakon; Krantz, Ian D.; Spinner, Nancy B. 分享 收藏
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