Results 151 to 160 of about 207,733 (353)

Genetic counselling. [PDF]

, 1994
Susan Michie
openalex   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling [PDF]

, 1999
M.G.E.M. Ausems, J. R. Verbiest, MMP Hermans, M.A. Kroos, F. A. Beemer, J.H.J. Wokke, L. Sandkuijl, A. J. J. Reuser, A. van der Ploeg   +8 more
openalex   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community

Genetics in Medicine Open
Purpose: Despite the rapid advancements in genomics and the enactment of a new cancer law in Chile, the implementation of cancer genetic counseling continues to face significant challenges because of limited resources and infrastructure.
Ricardo Fernández-Ramires, Sebastián Morales-Pison, Guilherme Gischkow Rucatti, César Echeverría, Esteban San Martín, Francisco Cammarata-Scalisi, Alexis Salas-Burgos, Daniela Adorno-Farias, Wilfredo Alejandro González-Arriagada, Yolanda Espinosa-Parrilla, Daniela Zapata-Contreras, Gabriela Norese, Conxi Lázaro, Sara González, Miguel Angel Pujana, Yasser Sullcahuaman, Sonia Margarit   +16 more
doaj  

Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection [PDF]

, 1997
Hans‐Ulrich Pauer, B. Hinney, H. W. Michelmann, E. W. Krasemann, Barbara Zoll, Werner Engel   +5 more
openalex   +1 more source

The Virginia Sickle Cell Anemia Awareness Program: Education, Screening, and Counseling [PDF]

, 1977
In 1968, a program of screening for sickle trait carriers was begun as part of the work of the Hematology Division, Department of Medicine, at the Medical College of Virginia.
Cooper, Florence N., Scott, Robert B.
core   +1 more source

Factors for Rituximab Refractoriness in AQP4‐IgG+ NMOSD: A Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition of the central nervous system (CNS), often associated with aquaporin‐4 antibodies (AQP4‐IgG). Rituximab, a CD20+ B‐cell depleting monoclonal antibody, is widely used as first‐line therapy.
Mariano Marrodan, María A. Piedrabuena, María A. Zarate, Sofía Rodríguez Murúa, Ezequiel I. Surace, Mauricio F. Farez, Marcela P. Fiol, María C. Ysrraelit, Jorge Correale   +8 more
wiley   +1 more source

A Study of the Agency role in Referral and followup of Genetic Counseling

, 1977
Rebecca Sager Ashery
openalex   +1 more source

Objectives of genetic counselling: differing views of purchasers, providers and users [PDF]

, 1998
Susan Michie, Abi Allanson, David Armstrong, John Weinman, Martin Bobrow, Theresa M. Marteau   +5 more
openalex   +1 more source