Found: 37
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Ante-natal counseling in phacomatoses.
- Published in:
- Child's Nervous System, 2020, v. 36, n. 10, p. 2269, doi. 10.1007/s00381-020-04776-3
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- Publication type:
- Article
High prevalence of elevated blood pressure among children with neurofibromatosis type 1.
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- Pediatric Nephrology, 2016, v. 31, n. 1, p. 131, doi. 10.1007/s00467-015-3191-6
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- Publication type:
- Article
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39040-0
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- Publication type:
- Article
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39040-0
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- Publication type:
- Article
Correction: The effect of CAG repeats length on differences in hirsutism among healthy Israeli women of different ethnicities.
- Published in:
- 2018
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- Publication type:
- Correction Notice
The effect of CAG repeats length on differences in hirsutism among healthy Israeli women of different ethnicities.
- Published in:
- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0195046
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- Publication type:
- Article
VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.
- Published in:
- Neurogenetics, 2019, v. 20, n. 4, p. 187, doi. 10.1007/s10048-019-00586-1
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- Publication type:
- Article
The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies.
- Published in:
- 2021
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- Publication type:
- journal article
Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally.
- Published in:
- Archives of Gynecology & Obstetrics, 2021, v. 303, n. 1, p. 85, doi. 10.1007/s00404-020-05729-6
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- Publication type:
- Article
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 13, p. 2431, doi. 10.1093/hmg/ddp181
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- Article
Specific Neurological Phenotypes in Autism Spectrum Disorders Are Associated with Sex Representation.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2013, v. 6, n. 6, p. 596, doi. 10.1002/aur.1319
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- Article
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 535, doi. 10.1038/ejhg.2012.221
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- Publication type:
- Article
Monogenic Causes of Apparently Idiopathic Perinatal Intracranial Hemorrhage.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 4, p. 813, doi. 10.1002/ana.26033
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- Publication type:
- Article
Large scale population screening for Duchenne muscular dystrophy—Predictable and unpredictable challenges.
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- Prenatal Diagnosis, 2022, v. 42, n. 9, p. 1162, doi. 10.1002/pd.6201
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- Article
Microscopic chromosome Xp distal deletions - a challenging issue in prenatal genetic counseling.
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- Prenatal Diagnosis, 2014, v. 34, n. 6, p. 592, doi. 10.1002/pd.4354
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- Publication type:
- Article
Undetected sex chromosome aneuploidy by chromosomal microarray.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 11, p. 1117, doi. 10.1002/pd.3979
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- Publication type:
- Article
Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 10, p. 932, doi. 10.1002/pd.2817
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- Publication type:
- Article
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
- Published in:
- Acta Neuropathologica, 2017, v. 134, n. 6, p. 889, doi. 10.1007/s00401-017-1748-0
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- Publication type:
- Article
Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 4, p. 442, doi. 10.1111/cge.14106
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- Publication type:
- Article
MHC Haplotyping of SARS-CoV-2 Patients: HLA Subtypes Are Not Associated with the Presence and Severity of COVID-19 in the Israeli Population.
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- Journal of Clinical Immunology, 2021, v. 41, n. 6, p. 1154, doi. 10.1007/s10875-021-01071-x
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- Publication type:
- Article
The yield of chromosomal microarray testing for cases of abnormal fetal head circumference.
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- Journal of Perinatal Medicine, 2020, v. 48, n. 6, p. 553, doi. 10.1515/jpm-2020-0048
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- Publication type:
- Article
Microarray findings in pregnancies with oligohydramnios – a retrospective cohort study and literature review.
- Published in:
- Journal of Perinatal Medicine, 2020, v. 48, n. 1, p. 53, doi. 10.1515/jpm-2019-0228
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- Publication type:
- Article
Chromosomal microarray findings in pregnancies with an isolated pelvic kidney.
- Published in:
- Journal of Perinatal Medicine, 2019, v. 47, n. 1, p. 30, doi. 10.1515/jpm-2017-0321
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- Publication type:
- Article
The rare 13q33–q34 microdeletions: eight new patients and review of the literature.
- Published in:
- Human Genetics, 2019, v. 138, n. 10, p. 1145, doi. 10.1007/s00439-019-02048-y
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- Publication type:
- Article
Microarray analysis has no additional value in fetal aberrant right subclavian artery: description of 268 pregnancies and systematic literature review.
- Published in:
- 2019
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- Publication type:
- journal article
The Yield of Chromosomal Microarray in Pregnancies Complicated with Fetal Growth Restriction Can Be Predicted According to Clinical Parameters.
- Published in:
- 2021
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- Publication type:
- journal article
Correction: MicroRNAs Expression in the Ileal Pouch of Patients with Ulcerative Colitis Is Robustly Up-Regulated and Correlates with Disease Phenotypes.
- Published in:
- 2016
- By:
- Publication type:
- Correction Notice
What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?
- Published in:
- 2020
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- Publication type:
- journal article
Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population.
- Published in:
- Journal of Molecular Neuroscience, 2017, v. 63, n. 2, p. 216, doi. 10.1007/s12031-017-0972-3
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- Publication type:
- Article
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1052, doi. 10.1002/humu.22832
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- Publication type:
- Article
Short-term Adverse Events After the Third Dose of the BNT162b2 mRNA COVID-19 Vaccine in Adults 60 Years or Older.
- Published in:
- JAMA Network Open, 2022, v. 5, n. 4, p. e227657, doi. 10.1001/jamanetworkopen.2022.7657
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- Publication type:
- Article
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1091, doi. 10.1002/ajmg.a.61125
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- Publication type:
- Article
Cranial irradiation in childhood mimicking neurofibromatosis type II.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1635, doi. 10.1002/ajmg.a.38211
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- Publication type:
- Article
Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 744, doi. 10.1002/ajmg.a.38027
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- Publication type:
- Article
The effect of parental age on the presence of de novo mutations - Lessons from neurofibromatosis type I.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 4, p. 480, doi. 10.1002/mgg3.222
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- Publication type:
- Article
MicroRNAs Expression in the Ileal Pouch of Patients with Ulcerative Colitis Is Robustly Up-Regulated and Correlates with Disease Phenotypes.
- Published in:
- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0159956
- By:
- Publication type:
- Article