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Correction to: Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.
- Published in:
- 2019
- By:
- Publication type:
- corrected article
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2019, v. 474, n. 2, p. 259, doi. 10.1007/s00428-018-2462-6
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- Publication type:
- Article
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 285, doi. 10.1002/ajmg.a.38003
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- Publication type:
- Article
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2245, doi. 10.1002/ajmg.a.35474
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- Publication type:
- Article
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.
- Published in:
- Muscle & Nerve, 2008, v. 38, n. 2, p. 1060, doi. 10.1002/mus.21083
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- Publication type:
- Article
Evidence of white matter involvement in SCA 7.
- Published in:
- Journal of Neurology, 2007, v. 254, n. 4, p. 536, doi. 10.1007/s00415-006-0274-0
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- Publication type:
- Article
Correlation between GJB2 mutations and audiological deficits: personal experience.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2009, v. 266, n. 4, p. 489, doi. 10.1007/s00405-008-0775-9
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- Publication type:
- Article
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 246, doi. 10.3390/brainsci11020246
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- Publication type:
- Article
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 209, doi. 10.1038/sj.ejhg.5201949
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- Publication type:
- Article
Expansion to full mutation of a FMR1 intermediate allele over two generations.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 4, p. 333, doi. 10.1038/sj.ejhg.5201154
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- Publication type:
- Article
Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 421, doi. 10.1038/sj.ejhg.5200333
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- Publication type:
- Article
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5‐azadeoxycytidine.
- Published in:
- Nucleic Acids Research, 2002, v. 30, n. 14, p. 3278, doi. 10.1093/nar/gkf434
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- Publication type:
- Article
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2.
- Published in:
- European Neurology, 2018, v. 79, n. 3/4, p. 166, doi. 10.1159/000487508
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- Publication type:
- Article
Estudio clínico y molecular del síndrome de Noonan.
- Published in:
- Investigación Clínica, 2012, v. 53, n. 4, p. 395
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- Publication type:
- Article
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?
- Published in:
- Familial Cancer, 2019, v. 18, n. 4, p. 421, doi. 10.1007/s10689-019-00139-3
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- Publication type:
- Article
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
- Published in:
- Genes, Chromosomes & Cancer, 1997, v. 18, n. 1, p. 8, doi. 10.1002/(SICI)1098-2264(199701)18:1<8::AID-GCC2>3.0.CO;2-7
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- Publication type:
- Article
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1161, doi. 10.3390/genes13071161
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- Publication type:
- Article
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.
- Published in:
- Genes, 2020, v. 11, n. 3, p. 248, doi. 10.3390/genes11030248
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- Publication type:
- Article
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.
- Published in:
- Neurogenetics, 2020, v. 21, n. 4, p. 279, doi. 10.1007/s10048-020-00620-7
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- Publication type:
- Article
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use.
- Published in:
- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178113
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- Publication type:
- Article