[HTML][HTML] Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11. 2 Deletion Syndrome: Genotype–Phenotype Correlation
The most frequent microdeletion, 22q11. 2 deletion syndrome (22q11. 2DS), has a wide and
variable phenotype that causes difficulties in diagnosis. 22q11. 2DS is a contiguous gene …
variable phenotype that causes difficulties in diagnosis. 22q11. 2DS is a contiguous gene …
[HTML][HTML] Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report
Exon 21 deletion in the OPHN1 gene in a family with syndromi... : Medicine Exon 21 deletion in
the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report : Medicine …
the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report : Medicine …
[PDF][PDF] The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability
Molecular genetic testing in craniosynostosis leads to the detection of the mutations in the
genes encoding fibroblast growth factor receptors (FGFR), providing information about the …
genes encoding fibroblast growth factor receptors (FGFR), providing information about the …
[PDF][PDF] Multiplex ligation dependent probe amplification-A useful, fast and cost-effective method for identification of small supernumerary marker chromosome in …
Small supernumerary marker chromosome (sSMC) is a rare chromosomal abnormality and
is detected in about 0.3% in cases with multiple congenital anomalies (MCA) and/or …
is detected in about 0.3% in cases with multiple congenital anomalies (MCA) and/or …
[HTML][HTML] SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report
MC Ungureanu, A Hrisca, L Caba, L Teodoriu, S Bilha… - Diagnostics, 2022 - mdpi.com
Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases,
underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local …
underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local …
OCULO-AURICULO-VERTEBRAL SPECTRUM: CLINICAL FEATURES IN A COHORT OF 37 PATIENTS
Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving structures
derived from the first and second pharyngeal arches. The phenotype is clinically …
derived from the first and second pharyngeal arches. The phenotype is clinically …
[PDF][PDF] BASIC SCIENCES ORIGINAL PAPERS
V Martiniuc, M Grămescu, EV Gorduza, C Rusu - scholar.archive.org
OCULO-AURICULO-VERTEBRAL SPECTRUM: CLINICAL FEATURES IN A COHORT OF
37 PATIENTS (Abstract): Oculo-auriculo-vertebral spectrum (OAVS) is a developmental …
37 PATIENTS (Abstract): Oculo-auriculo-vertebral spectrum (OAVS) is a developmental …
[PDF][PDF] HIGH RISK PREGNANCY FOR ACHONDROPLASIA AND THE IMPORTANCE OF IgG AVIDITY TEST FOR DATING THE INFECTION WITH TOXOPLASMA …
I Resmeriță, S Popa, R Popescu, OC Gorduza… - researchgate.net
HIGH RISK PREGNANCY FOR ACHONDROPLASIA AND THE IMPORTANCE OF IgG
AVIDITY TEST FOR DATING THE INFECTION WITH TOXOPLASMA GONDII. CASE …
AVIDITY TEST FOR DATING THE INFECTION WITH TOXOPLASMA GONDII. CASE …
HIGH RISK PREGNANCY FOR ACHONDROPLASIA AND THE IMPORTANCE OF IgG AVIDITY TEST FOR DATING THE INFECTION WITH TOXOPLASMA GONDII …
R Irina, P Setalia, GO Cornelia, D Mihaela… - The Medical-Surgical …, 2021 - revmedchir.ro
Achondroplasia is the most common disproportionate dwarfism caused by a mutation in
fibroblast growth factor receptor 3 (FGFR3). The disease is inherited in an autosomal …
fibroblast growth factor receptor 3 (FGFR3). The disease is inherited in an autosomal …