Results 281 to 290 of about 36,508 (354)

Internal closure of a posterior perforation using amniotic membrane: A novel surgical technique

open access: yes
Acta Ophthalmologica, EarlyView.
J. S. Suwandi   +7 more
wiley   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

open access: yesClinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari   +7 more
wiley   +1 more source

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

open access: yesClinical Genetics, EarlyView.
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib   +12 more
wiley   +1 more source

The prion protein gene:a role in mouse embryogenesis? [PDF]

open access: yes, 1992
Hope, J   +5 more
core  

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

open access: yesClinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum   +13 more
wiley   +1 more source

An investigation of the therapeutic potential of the testicular tissue encapsulated in amnion membrane in mouse model: An experimental study. [PDF]

open access: yesInt J Reprod Biomed
Gholami K   +7 more
europepmc   +1 more source

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