共 39 条
- [31] Cytochrome c oxidase (COX) deficiency due to a novel homozygous COX6B1 pathogenic missense variantNEUROMUSCULAR DISORDERS, 2024, 43Oldfors, C.Jennions, E.Olsson-Engman, M.Visuttijai, K.Wiksell, A.Dominguez, N. FluriachKollberg, G.Oldfors, A.
- [32] Syndromic Variant of Severe Congenital Neutropenia Due to Mutations in the Gene Encoding Glucose 6 Phosphatase Catalytic Subunit 3JOURNAL OF CLINICAL IMMUNOLOGY, 2013, 33 : S136 - S136Chaia, G.Vargas, M. E.Castrejon, M. I.Jimenez, M. C.
- [33] New Generation Sequencing of Targeted Genes in Hairy Cell Leukemia Highlighted Mutations Associated to BRAFV600E anda New Recurrent Altered Gene, KDM6A, in Hairy Cell Leukemia Variant PatientsBLOOD, 2017, 130Troussard, XavierMaitre, ElsaBertrand, PhilippeMaingonnat, CatherineViailly, Pierre-JulienNaguib, DinaSalaun, VeroniqueCornet, EdouardSola, BrigitteJardin, Fabrice
- [34] CONGENITAL NONSPHEROCYTIC HEMOLYTIC-ANEMIA DUE TO GLUCOSE-6-PHOSPHATE-DEHYDROGENASE EAST - HARLEM - NEW DEFICIENT VARIANTJOURNAL OF PEDIATRICS, 1977, 90 (01): : 89 - 91FELDMAN, RGROMISCH, DSLUHBY, ALBEUTLER, E
- [35] Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican PopulationREVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 2022, 74 (06): : 328 - 339Lopez-Rodriguez, LarissaSvyryd, YevgeniyaBenitez-Alonso, Edmar O.Rivero-Garcia, PamelaLuna-Munoz, LeonoraMutchinick, Osvaldo M.
- [36] A likely pathogenic homozygous frameshift variant in BLOC1S6 associated with a rare form of congenital Hermansky-Pudlak syndrome 9GENE REPORTS, 2024, 37Nozari, AhouraBabaahmadi, PariaBoroujeni, Anahita FarahzadChoopani, RoyaSadeghi, TahaHeydari, KoroshSadeghi, Alireza
- [37] Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same PatientINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (21)Vasilyeva, Tatyana A.Sukhanova, Natella V.Marakhonov, Andrey V.Kuzina, Natalia Yu.Shilova, Nadezhda V.Kadyshev, Vitaly V.Kutsev, Sergey I.Zinchenko, Rena A.
- [38] Case report: A novel intronic JMJD6 likely pathogenic variant (c.941+75G > T) associated with congenital eyelid coloboma in one of the identical twin sistersFRONTIERS IN GENETICS, 2025, 16Li, XinZhang, YuqiChai, GangSu, WeijieZhang, Yan
- [39] What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final DiagnosisGENES, 2023, 14 (01)Bukvic, NenadChetta, MassimilianoBagnulo, RosannaLeotta, ValentinaPantaleo, AntoninoPalumbo, OrazioPalumbo, PietroOro, MariaRivieccio, MariaLaforgia, NicolaDe Rinaldis, MartaRosati, AlessandraKerkhof, JenniferSadikovic, BekimResta, Nicoletta