Results 241 to 250 of about 6,322,056 (300)

RETRACTION: Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype. [PDF]

Mol Genet Genomic Med
europepmc   +1 more source

Concerns regarding the safety and efficacy of ES-Cu-Captisol for Menkes disease

The Journal of Clinical Investigation
Stephen G. Kaler
doaj   +1 more source

REVIEW OF CLINICAL GENETICS

, 1978
Medical Research Council [MRC]
core  

Correction to "A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum". [PDF]

Mol Genet Genomic Med
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Mosaicism and clinical genetics

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2014
With the introduction of increasingly sensitive technologies for mutation detection such as chromosomal microarrays and next‐generation sequencing, the importance of mosaicism for human disease is being more fully appreciated. Mosaicism can occur for any type of mutation, either at the chromosomal or DNA sequence level, and while in many cases ...
Nancy B, Spinner, Laura K, Conlin
openaire   +2 more sources