Short case report Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination do Rosario, Michelle C.; Kaur, Parneet; Girisha, Katta Mohan; More do Rosario, Michelle C.; Kaur, Parneet; Girisha, Katta Mohan; Bielas, Stephanie; Shukla, Anju Less April 19, 2022 Favorites PDF Get Content & Permissions Buy SDC PAP
Short case report Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report. Martínez, Rafael; Peña, Camilo; Quiroga-Carrillo, Manuela; More Martínez, Rafael; Peña, Camilo; Quiroga-Carrillo, Manuela; Ordóñez-Reyes, Camila; Rincón, Julián; Suárez-Obando, Fernando; Nossa, Sergio; García, María Fernanda Less April 08, 2022 Favorites PDF Get Content & Permissions Buy PAP
Short case report Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant Geckinli, Bilgen Bilge; Alavanda, Ceren; Arslan Ates, Esra; More Geckinli, Bilgen Bilge; Alavanda, Ceren; Arslan Ates, Esra; Yildirim, Ozlem; Arman, Ahmet Less April 08, 2022 Favorites PDF Get Content & Permissions Buy PAP
Short case report: PDF Only Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review Odeh, Osama; Barqawi, Tawfiq; Rashid, Hussein; More Odeh, Osama; Barqawi, Tawfiq; Rashid, Hussein; Almashhdi, Safa; Shboul, Mohammad Less March 07, 2022 Favorites PDF Get Content & Permissions Buy PAP
Original article: PDF Only Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic Lee, Mianne; Lui, Adrian C.Y.; Mak, Christopher C.Y.; More Lee, Mianne; Lui, Adrian C.Y.; Mak, Christopher C.Y.; Tsang, Mandy H.Y.; Fung, Jasmine L.F.; Yeung, K.S.; Chung, Brian Hon Yin Less March 07, 2022 Abstract Abstract Favorites PDF Get Content & Permissions Buy PAP
Short case report: PDF Only Acalvaria and imperforate anus: an extremely rare association Del Castillo-Calderón, Gabriel; Delgado-Nacaza, Gloria Aurora; Hernández-Obando, Maria Camila; More Del Castillo-Calderón, Gabriel; Delgado-Nacaza, Gloria Aurora; Hernández-Obando, Maria Camila; Eraso-Narváez, Hector; Portillo-Miño, José Darío Less March 07, 2022 Favorites PDF Get Content & Permissions Buy PAP
Original article: PDF Only Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata Woods, Emily; Yates, Michael; Kanani, Farah; More Woods, Emily; Yates, Michael; Kanani, Farah; Balasubramanian, Meena Less March 07, 2022 Abstract Abstract Favorites PDF Get Content & Permissions Buy PAP
Review article: PDF Only “Laurin-Sandrow Syndrome – a review of the literature and classification system” Buzea, Cezar; Boulanger, Nathalie Buzea, Cezar; Boulanger, Nathalie Less March 07, 2022 Abstract Abstract Favorites PDF Get Content & Permissions Buy PAP
Short case report: PDF Only Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene Tesarova, Marketa; Baxova, Alice; Hansikova, Hana; More Tesarova, Marketa; Baxova, Alice; Hansikova, Hana; Lambert, Lukas; Vondrackova, Alzbeta; Leiska, Alena; Zeman, Jiri Less February 14, 2022 Favorites PDF Get Content & Permissions Buy PAP
Short case report: PDF Only Rare variant of atypical Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with breast malformation: case report and review of literature Mahey, Reeta; Ramaswamy, Anjali; Cheluvaraju, Rohitha; More Mahey, Reeta; Ramaswamy, Anjali; Cheluvaraju, Rohitha; Manchanda, Smita; Bhatla, Neerja Less February 13, 2022 Favorites PDF Get Content & Permissions Buy PAP
Original article: PDF Only Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature Samur, Bahadir M.; Gümüş, Gülsüm; Canpolat, Mehmet; More Samur, Bahadir M.; Gümüş, Gülsüm; Canpolat, Mehmet; Gümüş, Hakan; Per, Hüseyin; Cağlayan, Ahmet Okay Less January 31, 2022 Abstract Abstract Favorites PDF Get Content & Permissions Buy PAP
Short case report: PDF Only Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report Akleyin, Ebru; Yeniçeri Özata, Merve; Crisponi, Giangiorgio Akleyin, Ebru; Yeniçeri Özata, Merve; Crisponi, Giangiorgio Less January 31, 2022 Favorites PDF Get Content & Permissions Buy PAP
