Found: 81
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Aplasia cutis congenita and low molecular weight heparin.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 2005, v. 112, n. 2, p. 256, doi. 10.1111/j.1471-0528.2004.00347.x
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- Publication type:
- Article
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99747-2
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- Publication type:
- Article
Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A.
- Published in:
- Journal of Child Neurology, 2017, v. 32, n. 6, p. 560, doi. 10.1177/0883073817696816
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- Publication type:
- Article
Brittle cornea syndrome: recognition, molecular diagnosis and management.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-68
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- Publication type:
- Article
Brittle cornea syndrome: recognition, molecular diagnosis and management.
- Published in:
- 2013
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- Publication type:
- journal article
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 4, p. 199, doi. 10.1038/jhg.2014.122
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- Publication type:
- Article
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 502, doi. 10.1002/ajmg.c.31738
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- Publication type:
- Article
The ARID1B phenotype: What we have learned so far.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 276, doi. 10.1002/ajmg.c.31414
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- Publication type:
- Article
Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience.
- Published in:
- Public Health Genomics, 2016, v. 19, n. 1, p. 19, doi. 10.1159/000440710
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- Publication type:
- Article
Further delineation of phenotypic spectrum of SCN2A‐related disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 867, doi. 10.1002/ajmg.a.62595
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- Publication type:
- Article
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3083, doi. 10.1002/ajmg.a.62370
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- Publication type:
- Article
Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1058, doi. 10.1002/ajmg.a.61131
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- Publication type:
- Article
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 570, doi. 10.1002/ajmg.a.61061
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- Publication type:
- Article
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1115, doi. 10.1002/ajmg.a.38131
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- Publication type:
- Article
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 753, doi. 10.1002/ajmg.a.38072
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- Publication type:
- Article
Clinical and genetic aspects of KBG syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2835, doi. 10.1002/ajmg.a.37842
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- Publication type:
- Article
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1115, doi. 10.1002/ajmg.a.37587
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- Publication type:
- Article
Cover Image, Volume 170A, Number 5, May 2016.
- Published in:
- 2016
- By:
- Publication type:
- Other
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1216, doi. 10.1002/ajmg.a.37564
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- Publication type:
- Article
A Recurrent Synonymous KAT6B Mutation Causes Say-Barber-Biesecker/Young-Simpson Syndrome by Inducing Aberrant Splicing.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3006, doi. 10.1002/ajmg.a.37343
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- Publication type:
- Article
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 461, doi. 10.1002/ajmg.a.36922
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- Publication type:
- Article
Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2733, doi. 10.1002/ajmg.a.35681
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- Publication type:
- Article
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 6, p. 527, doi. 10.1038/ng.822
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- Publication type:
- Article
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
- Published in:
- Nature Genetics, 2008, v. 40, n. 12, p. 1410, doi. 10.1038/ng.252
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- Publication type:
- Article
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
- Published in:
- Nature Genetics, 2005, v. 37, n. 3, p. 221, doi. 10.1038/ng1517
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- Publication type:
- Article
Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome.
- Published in:
- Nature Genetics, 2002, v. 32, n. 4, p. 661, doi. 10.1038/ng1040
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- Publication type:
- Article
Outcome of pregnancy in women with Marfan's syndrome.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1997, v. 104, n. 2, p. 201, doi. 10.1111/j.1471-0528.1997.tb11045.x
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- Publication type:
- Article
Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.
- Published in:
- Cleft Palate Craniofacial Journal, 2020, v. 57, n. 5, p. 606, doi. 10.1177/1055665620902880
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- Publication type:
- Article
Observation of Cleft Palate in an Individual with SOX11 Mutation.
- Published in:
- Cleft Palate Craniofacial Journal, 2018, v. 55, n. 3, p. 456, doi. 10.1177/1055665617739312
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- Publication type:
- Article
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Book Review: Angelman Syndrome.
- Published in:
- 2009
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- Publication type:
- Book Review
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
- Published in:
- Human Genetics, 2020, v. 139, n. 4, p. 461, doi. 10.1007/s00439-019-02102-9
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- Publication type:
- Article
William Reardon: The Bedside Dysmorphologist.
- Published in:
- 2008
- By:
- Publication type:
- Book Review
U. Eiholzer, D. L'Allemand, WB. Zipf (eds): Prader-Willi syndrome as a model for obesity.
- Published in:
- Human Genetics, 2004, v. 114, n. 4, p. 398, doi. 10.1007/s00439-003-1064-8
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- Publication type:
- Article
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 376, doi. 10.1007/s00439-002-0777-4
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- Publication type:
- Article
Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes.
- Published in:
- Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s11689-019-9282-0
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- Publication type:
- Article
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. -1, doi. 10.1038/ejhg.2014.178
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- Publication type:
- Article
Clinical utility gene card for: Angelman Syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 1, doi. 10.1038/ejhg.2014.93
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- Publication type:
- Article
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 82, doi. 10.1038/ejhg.2012.116
- By:
- Publication type:
- Article
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 598, doi. 10.1038/ejhg.2011.269
- By:
- Publication type:
- Article
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1, doi. 10.1038/ejhg.2011.108
- By:
- Publication type:
- Article
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 434, doi. 10.1038/ejhg.2008.192
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- Publication type:
- Article
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1105, doi. 10.1038/sj.ejhg.5201896
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- Publication type:
- Article
Large, rare chromosomal deletions associated with severe early-onset obesity.
- Published in:
- Nature, 2010, v. 463, n. 7281, p. 666, doi. 10.1038/nature08689
- By:
- Publication type:
- Article
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Clinical and genetic variability in children with partial albinism.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-51768-8
- By:
- Publication type:
- Article
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00611
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- Publication type:
- Article
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3378, doi. 10.1093/brain/awt249
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- Publication type:
- Article
Foetal antiepileptic drug exposure and verbal versus non-verbal abilities at three years of age.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 2, p. 396, doi. 10.1093/brain/awq352
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- Publication type:
- Article
Angelman syndrome: evolution of the phenotype in adolescents and adults.
- Published in:
- Developmental Medicine & Child Neurology, 2001, v. 43, n. 7, p. 476, doi. 10.1111/j.1469-8749.2001.tb00746.x
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- Publication type:
- Article