Results 161 to 170 of about 63,159 (270)

Karyotype studies in twenty-two species of parrots (Psittaciformes:Aves)

, 1991
Departamento de Genetica, Instituto de Biociencias, UNESP, 18600 ...
Lanier, C., De Lucca, E. J., Shirley, L. R.   +2 more
core  

The Thickness That Deceives: The Role of Imaging, Biopsy, and Genetics in the Evaluation of Ventricular Hypertrophy. [PDF]

Arq Bras Cardiol
Antunes MO.
europepmc   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, Volume 36, Issue 4, July 2026.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

INTRODUZIONE ALLA GENETICA

, 2015
Bonora: lezione di Genetica 16/04 ...
Soverini, Simona
core  

Effects of Lacticaseibacillus rhamnosus L156.4 and Lactococcus lactis NCDO 2118 strains on reducing alcohol intake and preference in an animal model of high alcohol consumption and preference. [PDF]

Sci Rep
Amormino MS, Moreira-Júnior RE, Vasconcelos RA, Dos Santos IN, de Moura Gonçalves ABR, Mendes MV, de Lima Santos J, Barroso FAL, de Carvalho Azevedo VA, Maioli TU, Faria AMC, Ferreira E, Brunialti-Godard AL.   +12 more
europepmc   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 1, Page 29-35, July 2026.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Genetica del Sistema Immunitario

, 2015
Bonora - Lezione di Genetica del 23/06 ...
Soverini, Simona
core  

Two adult 46,XY sisters with female-like phenotype due to a novel homozygous <i>LHCGR</i> splice-site variant. [PDF]

JCEM Case Rep
Meirelles MG, Scalco RC, Marques JM, Lima Junior J, Bueno CF, Mendonca BB.   +5 more
europepmc   +1 more source

Epidemiologia da paralisia cerebral no Brasil pela perspectiva da Classificação Internacional de Funcionalidade, Incapacidade e Saúde

Developmental Medicine &Child Neurology, Volume 68, Issue 7, Page e89-e103, July 2026.
Resumo Objetivo Estabelecer uma descrição geral das pessoas com paralisia cerebral (PC) no Brasil, incluindo a epidemiologia, características clínicas, funcionalidade e acesso à reabilitação e equipamentos, pela perspectiva da Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF), utilizando dados preliminares do Registro Brasileiro
Hércules Ribeiro Leite, Luana Cristina da Silva, Elton Duarte Dantas Magalhães, Israt Jahan, Nadia Badawi, Gulam Khandaker, Maysa Ferreira Martins Ribeiro, Juliana de Alcântara Moreira Pereira, Luma Sthephanine Viana Roque da Silva, Maria de las Mercedes Ruiz Brunner, Paula Silva de Carvalho Chagas   +10 more
wiley   +1 more source

Identification of a short nucleotide sequence with two anthropogenetically complementary markers

, 1997
Atti Associazione Genetica ...
B. M. CIMINELLI, F. POMPEI, G. MODIANO, RELUCENTI, Michela   +3 more
core