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Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 425, doi. 10.1159/000522532
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- Publication type:
- Article
Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.
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- Molecular Syndromology, 2021, v. 12, n. 3, p. 194, doi. 10.1159/000514122
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- Publication type:
- Article
New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor (RYR1) Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies.
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- Molecular Syndromology, 2020, v. 11, n. 2, p. 104, doi. 10.1159/000507034
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- Publication type:
- Article
Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome.
- Published in:
- 2024
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- Publication type:
- Case Study
The Effect of Resolution Level and Targeted Design in the Diagnostic Performance of Prenatal Chromosomal Microarray Analysis.
- Published in:
- Fetal Diagnosis & Therapy, 2023, v. 50, n. 6, p. 397, doi. 10.1159/000533137
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- Publication type:
- Article
Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search.
- Published in:
- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00557-y
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- Publication type:
- Article
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0459-8
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- Publication type:
- Article
Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature.
- Published in:
- Children, 2022, v. 9, n. 12, p. 1879, doi. 10.3390/children9121879
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- Publication type:
- Article
An asymptomatic male individual carrying a 5.72 Mb de novo deletion in 8p23.2‑p23.3: A case report.
- Published in:
- 2024
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- Publication type:
- Case Study
Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature.
- Published in:
- 2014
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- Publication type:
- Case Study
Cell‑free fetal DNA at 11‑13 weeks of gestation is not altered in complicated pregnancies.
- Published in:
- Biomedical Reports, 2024, v. 20, n. 4, p. N.PAG, doi. 10.3892/br.2024.1757
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- Publication type:
- Article
A novel familial mutation associated with Treacher Collins syndrome: A case report.
- Published in:
- Biomedical Reports, 2020, v. 12, n. 5, p. 285, doi. 10.3892/br.2020.1284
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- Publication type:
- Article
Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report.
- Published in:
- Biomedical Reports, 2019, v. 10, n. 6, p. 354, doi. 10.3892/br.2019.1210
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- Publication type:
- Article
Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.
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- Molecular Medicine Reports, 2017, v. 16, n. 6, p. 8808, doi. 10.3892/mmr.2017.7760
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- Publication type:
- Article
Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: A case report.
- Published in:
- Molecular Medicine Reports, 2014, v. 9, n. 1, p. 163, doi. 10.3892/mmr.2013.1788
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- Publication type:
- Article
Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0175-y
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- Publication type:
- Article
Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH.
- Published in:
- Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-47
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- Publication type:
- Article
A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia.
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- Journal of Diabetes, 2021, v. 13, n. 8, p. 688, doi. 10.1111/1753-0407.13183
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- Publication type:
- Article
Charcot–Marie–Tooth Disease Type 2‑Like Phenotype due to a Novel Variant in the Stalk Domain of KIF5A.
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- Neurology India, 2023, v. 71, n. 3, p. 577, doi. 10.4103/0028-3886.378650
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- Publication type:
- Article
Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1476, doi. 10.1002/ajmg.a.33981
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- Publication type:
- Article
Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study.
- Published in:
- 2017
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- Publication type:
- journal article
Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases.
- Published in:
- 2015
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- Publication type:
- journal article
Dual testing with QF-PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13 500 cases with consideration of using QF-PCR as a stand-alone test according to referral indications.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 7, p. 680, doi. 10.1002/pd.3888
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- Publication type:
- Article
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth.
- Published in:
- Prenatal Diagnosis, 2010, v. 30, n. 6, p. 586, doi. 10.1002/pd.2524
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- Publication type:
- Article
Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH.
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- Prenatal Diagnosis, 2009, v. 29, n. 9, p. 884, doi. 10.1002/pd.2295
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- Publication type:
- Article
Invasive Prenatal Diagnostic Testing for Aneuploidies in Singleton Pregnancies: A Comparative Review of Major Guidelines.
- Published in:
- Medicina (1010660X), 2022, v. 58, n. 10, p. 1472, doi. 10.3390/medicina58101472
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- Publication type:
- Article
Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties.
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- Cytogenetic & Genome Research, 2016, v. 147, n. 2/3, p. 118, doi. 10.1159/000442583
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- Publication type:
- Article
Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.
- Published in:
- Cytogenetic & Genome Research, 2015, v. 145, n. 1, p. 19, doi. 10.1159/000381568
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- Publication type:
- Article
An Interstitial 4q31.21q31.22 Microdeletion Associated with Developmental Delay: Case Report and Literature Review.
- Published in:
- Cytogenetic & Genome Research, 2014, v. 142, n. 4, p. 227, doi. 10.1159/000361001
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- Publication type:
- Article
Genetic diversity of bat species in the cross-border area of Greece and Bulgaria.
- Published in:
- Journal of Biological Research, 2023, v. 30, p. 1, doi. 10.26262/jbrt.v30i0.9024
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- Publication type:
- Article