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「"Breman AM "[Author]」の検索結果

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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.

An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease.

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

Pretransplant HLA Typing Revealed Loss of Heterozygosity in the Major Histocompatibility Complex in a Patient with Acute Myeloid Leukemia.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Identification of novel candidate disease genes from de novo exonic copy number variants.

Characterization of Chromosomal Abnormalities in Pregnancy Losses Reveals Critical Genes and Loci for Human Early Development.

Mechanisms for Complex Chromosomal Insertions.

Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women.

Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.

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