Molecular genetic landscape of hereditary hearing loss in Pakistan
S Naz - Human Genetics, 2022 - Springer
Approximately 14.5 million Pakistani individuals have a hearing loss and half of these cases
may be due to genetic causes. Though significant progress has been made in uncovering …
may be due to genetic causes. Though significant progress has been made in uncovering …
Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes
R Rodríguez-López, F Gimeno-Ferrer… - Current …, 2022 - benthamdirect.com
Background: Individuals with a phenotype of early-onset severe obesity associated with
intellectual disability can have molecular diagnoses ranging from monogenic to complex …
intellectual disability can have molecular diagnoses ranging from monogenic to complex …
Exome sequencing identified molecular determinants of retinal dystrophies in nine consanguineous Pakistani families
Inherited retinal dystrophies (IRDs) are a heterogeneous group of degenerative disorders of
the retina. Retinitis Pigmentosa (RP) is a common type of IRD that causes night blindness …
the retina. Retinitis Pigmentosa (RP) is a common type of IRD that causes night blindness …