Keywords: amniocentesis; aneuploidy; chromosome anomalies; copy number variation sequencing; invasive prenatal diagnosis; microdeletions; microduplications; variants of uncertain significance;
مقالات ISI (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: cell-free DNA; chromosomal copy number variant; genomewide; microdeletions; noninvasive prenatal testing; subchromosomal copy number variant;
Keywords: IVF; ART; Chromosome anomalies; Cystic fibrosis; Genomic imprinting; Health outcomes; Imprinting disorders; Microdeletions
Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B
Keywords: KTM2B; Dystonia; Microdeletions; Genetic and inherited disorders; CNV; Copy number variants; GPI-DBS; Globus pallidus interna-deep brain stimulation; ID; Intellectual disability; MLPA; Multiplex ligation-dependent probe amplification; MRI; Magnetic resona
Infertilidade masculina decorrente de microdeleções no cromossomo Y
Keywords: Cromossomo Y; Infertilidade masculina; Microdeleções; Y chromosome; Male infertility; Microdeletions;
Non-coding VMA21 deletions cause X-linked Myopathy with Excessive Autophagy
Keywords: XMEA; Microdeletions; Autophagy; VMA21; Lysosomal ATPase
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF)
Keywords: PEAF; LTE; LGI1; Microdeletions; MLPA; Genetic heterogeneity;
Y chromosome azoospermia factor region microdeletions are not associated with idiopathic recurrent spontaneous abortion in a Slovenian population: association study and literature review
Keywords: Male infertility; microdeletions; miscarriage; pregnancy; spermatogenesis;
Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis
Keywords: Glut-1 deficiency syndrome; Microdeletions; SNP oligonucleotide microarray analysis (SOMA)
Chromosome Y et spermatogenèse
Keywords: Chromosome Y; Spermatogenèse; Facteur AZF; Microdélétions; Polymorphisme; Y chromosome; Spermatogenesis; AZF factor; Microdeletions; Polymorphism;
Sex chromosome characteristics and recurrent miscarriage
Keywords: Recurrent miscarriage; Y chromosome; microdeletions; X chromosome inactivation
Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder
Keywords: Array comparative genomic hybridization; autism; microdeletions; microduplications
Y-chromosome microdeletions and recurrent pregnancy loss
Keywords: Y-chromosome; microdeletions; recurrent pregnancy loss; miscarriages; infertility; male factor infertility; habitual abortions
Polymorphismes du chromosome Y et fertilité masculine
Keywords: Chromosome Y; Infertilité masculine; Spermatogenèse; Microdélétions; Délétion gr/gr; DAZ; Y Chromosome; Male infertility; Spermatogenesis; Microdeletion; gr/gr deletion; DAZ;
MAPH: from gels to microarrays
Keywords: MAPH; Genetic imbalances; Copy number changes; Microdeletions; Microduplications; Array; CGH;