Found: 23
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Simpson-golabi-behmel syndrome types I and II.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0138-0
- By:
- Publication type:
- Article
Simpson-Golabi-Behmel syndrome types I and II.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2819, doi. 10.1002/ajmg.a.62883
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- Publication type:
- Article
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2740, doi. 10.1002/ajmg.a.37852
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- Publication type:
- Article
Two Novel POC1A Mutations in the Primordial Dwarfism, SOFT Syndrome: Clinical Homogeneity but Also Unreported Malformations.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 210, doi. 10.1002/ajmg.a.37393
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- Publication type:
- Article
Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1018, doi. 10.1002/ajmg.a.36879
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- Publication type:
- Article
Chondrodysplasia punctata associated with maternal Sjögren syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1606, doi. 10.1002/ajmg.a.36470
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- Publication type:
- Article
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
- Published in:
- Nature Genetics, 2009, v. 41, n. 1, p. 95, doi. 10.1038/ng.270
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- Publication type:
- Article
Rubinstein-Taybi 2 associated to novel <italic>EP300</italic> mutations: deepening the clinical and genetic spectrum.
- Published in:
- BMC Medical Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12881-018-0548-2
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- Publication type:
- Article
Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 7, p. 562, doi. 10.1002/pd.374
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- Publication type:
- Article
LETTER TO THE EDITOR. Multiple-marker Screen Positive Results in Noonan Syndrome.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 2, p. 183, doi. 10.1002/(SICI)1097-0223(199602)16:2<183::AID-PD850>3.0.CO;2-F
- By:
- Publication type:
- Article
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 907, doi. 10.1038/ejhg.2014.205
- By:
- Publication type:
- Article
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 416, doi. 10.1038/ejhg.2010.236
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- Publication type:
- Article
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 892, doi. 10.1038/sj.ejhg.5201062
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- Publication type:
- Article
Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.
- Published in:
- European Journal of Endocrinology, 2017, v. 177, n. 2, p. 175, doi. 10.1530/EJE-17-0132
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- Publication type:
- Article
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 6, p. 726, doi. 10.1111/cge.13504
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- Publication type:
- Article
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.972
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- Publication type:
- Article
A New Overgrowth Syndrome is due to Mutations in RNF125.
- Published in:
- Human Mutation, 2014, v. 35, n. 12, p. 1436, doi. 10.1002/humu.22689
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- Publication type:
- Article
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
- Published in:
- Genes, 2023, v. 14, n. 4, p. 820, doi. 10.3390/genes14040820
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- Publication type:
- Article
Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 707, doi. 10.3390/genes12050707
- By:
- Publication type:
- Article
Correction to: Heredity and in vivo confocal microscopy of punctiform and polychromatic pre-Descemet dystrophy.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
Heredity and in vivo confocal microscopy of punctiform and polychromatic pre-Descemet dystrophy.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2018, v. 256, n. 9, p. 1661, doi. 10.1007/s00417-018-3993-x
- By:
- Publication type:
- Article