Results 61 to 70 of about 14,255 (146)

Enhancing Mobility: Surgical Deformity Correction and Rehabilitation in Emery-Dreifuss Muscular Dystrophy Type 2. [PDF]

Cureus
Debnath A, Athani B, Das J, Chandini NC.
europepmc   +1 more source

Homozygous Mutation in the QARS1 Gene Causing Developmental Epileptic Encephalopathy in Siblings in the Southeast Asian Region: An Interesting Case Report and Discussion. [PDF]

Cureus
Srivastava P, Uddin MW, Diwakar K, Biswal S, Senapati A.   +4 more
europepmc   +1 more source

Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease. [PDF]

Kidney Int Rep
Serrano B, Savige J.
europepmc   +1 more source

Disease, Accident, and Trauma: A Case Report on Sudden Death in Wiskott-Aldrich's Syndrome. [PDF]

Acad Forensic Pathol
Manral I, Sagoo GK, T A, Manral R, Radhakrishna KV, Makhani CS, Khan RN.   +6 more
europepmc   +1 more source

Online Mendelian Inheritance in Animals (OMIA): a genetic resource for vertebrate animals. [PDF]

Mamm Genome
Tammen I, Mather M, Leeb T, Nicholas FW.
europepmc   +1 more source

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease. [PDF]

Genes (Basel)
Flores-Ocampo V, Lim AW, Ogonowski NS, García-Marín LM, Ong JS, Yeow D, Gonzaga-Jauregui C, Kumar KR, Rentería ME.   +8 more
europepmc   +1 more source

Letter to the editor of Heliyon re: A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report [Heliyon 2024; 10(7): e28680]. [PDF]

Heliyon
Abdulmalek O, Alrefaie K.
europepmc   +1 more source

Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease. [PDF]

Cell Rep Methods
Petrazzini BO, Balick DJ, Forrest IS, Cho J, Rocheleau G, Jordan DM, Do R.   +6 more
europepmc   +1 more source

Paternal Split-Liver Transplantation Followed by Haploidentical Hematopoietic Cell Transplantation in an Adult Patient With Protoporphyria-Induced Liver Failure. [PDF]

EJHaem
Stölzel U, Jost L, Seehofer D, Egger-Heidrich K, Scheuermann U, Hölig K, Stauch T, Kunadt D, Schuppan D, Schetelig J, Wohmann N, Bornhäuser M, Stölzel F.   +12 more
europepmc   +1 more source

Deciphering the mystery of CHNG3. [PDF]

Ann Pediatr Endocrinol Metab
Narumi S.
europepmc   +1 more source