Found: 42
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Growth charts for children with Ellis-van Creveld syndrome.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion.
- Published in:
- Clinical Genetics, 1996, v. 50, n. 6, p. 520, doi. 10.1111/j.1399-0004.1996.tb02726.x
- By:
- Publication type:
- Article
Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 42, doi. 10.1111/j.1399-0004.1996.tb04323.x
- By:
- Publication type:
- Article
Haspeslagh syndrome without severe mental retardation and pterygia?
- Published in:
- Clinical Genetics, 1995, v. 47, n. 5, p. 263, doi. 10.1111/j.1399-0004.1995.tb04308.x
- By:
- Publication type:
- Article
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 12, p. 801, doi. 10.1038/jhg.2010.116
- By:
- Publication type:
- Article
5p13 microduplication in a malformed fetus and his unaffected father.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 370, doi. 10.1002/ajmg.a.63030
- By:
- Publication type:
- Article
Cornelia de Lange syndrome and cancer: An open question.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 292, doi. 10.1002/ajmg.a.62992
- By:
- Publication type:
- Article
Elements of morphology: Standard terminology for the trunk and limbs.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3191, doi. 10.1002/ajmg.a.62965
- By:
- Publication type:
- Article
M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937–2018).
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1703, doi. 10.1002/ajmg.a.38845
- By:
- Publication type:
- Article
Variants in KAT6A and pituitary anomalies.
- Published in:
- 2017
- By:
- Publication type:
- Other
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1739, doi. 10.1002/ajmg.a.38267
- By:
- Publication type:
- Article
3D morphometry aids facial analysis of individuals with a childhood cancer.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2905, doi. 10.1002/ajmg.a.37850
- By:
- Publication type:
- Article
Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 10, doi. 10.1002/ajmg.a.36235
- By:
- Publication type:
- Article
A phenotype map for 14q32.3 terminal deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 695, doi. 10.1002/ajmg.a.35256
- By:
- Publication type:
- Article
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 3, p. 294, doi. 10.1038/ng1749
- By:
- Publication type:
- Article
Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare Microdeletions.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023182
- By:
- Publication type:
- Article
Development, cognition, and behaviour in Pitt-Hopkins syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 10, p. 925, doi. 10.1111/j.1469-8749.2012.04339.x
- By:
- Publication type:
- Article
Maternal Isodisomy for Chromosome 2p Causing Severe Congenital Hypothyroidism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 3, p. 1164, doi. 10.1210/jcem.86.3.7313
- By:
- Publication type:
- Article
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
- Published in:
- Human Genetics, 2009, v. 125, n. 5/6, p. 581, doi. 10.1007/s00439-009-0653-6
- By:
- Publication type:
- Article
Face shape differs in phylogenetically related populations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1268, doi. 10.1038/ejhg.2013.289
- By:
- Publication type:
- Article
Rubinstein-Taybi syndrome (CREBBP, EP300).
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.124
- By:
- Publication type:
- Article
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 872, doi. 10.1038/ejhg.2010.23
- By:
- Publication type:
- Article
Reply to Happle.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3–Xq12.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 543, doi. 10.1038/sj.ejhg.5201800
- By:
- Publication type:
- Article
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 505, doi. 10.1038/sj.ejhg.5201776
- By:
- Publication type:
- Article
Rubinstein–Taybi syndrome.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 9, p. 981, doi. 10.1038/sj.ejhg.5201594
- By:
- Publication type:
- Article
Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 6, doi. 10.1038/sj.ejhg.5201279
- By:
- Publication type:
- Article
Growth failure in adolescents: etiology, the role of pubertal timing and most useful criteria for diagnostic workup.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 4, p. 465, doi. 10.1515/jpem-2015-0267
- By:
- Publication type:
- Article
A Pellino‐2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia.
- Published in:
- FEBS Letters, 2023, v. 597, n. 9, p. 1290, doi. 10.1002/1873-3468.14597
- By:
- Publication type:
- Article
Prevalence and Patterns of Morphological Abnormalities in Patients With Childhood Cancer.
- Published in:
- JAMA: Journal of the American Medical Association, 2008, v. 299, n. 1, p. 61, doi. 10.1001/jama.2007.66
- By:
- Publication type:
- Article
Hemihydranencephaly with Favourable Outcome.
- Published in:
- Developmental Medicine & Child Neurology, 1992, v. 34, n. 5, p. 454, doi. 10.1111/j.1469-8749.1992.tb11459.x
- By:
- Publication type:
- Article
European lipodystrophy registry: background and structure.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study.
- Published in:
- Human Reproduction, 2007, v. 22, n. 9, p. 2476, doi. 10.1093/humrep/dem172
- By:
- Publication type:
- Article
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 1, p. 72, doi. 10.1093/hmg/ddab014
- By:
- Publication type:
- Article
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 4, p. 987, doi. 10.1093/hmg/ddu513
- By:
- Publication type:
- Article
Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.
- Published in:
- Pediatric Diabetes, 2009, v. 10, n. 3, p. 193, doi. 10.1111/j.1399-5448.2008.00470.x
- By:
- Publication type:
- Article
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. E2018, doi. 10.1002/humu.21416
- By:
- Publication type:
- Article
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2172, doi. 10.1093/hmg/ddn116
- By:
- Publication type:
- Article
A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 9, p. 1785, doi. 10.1093/hmg/8.9.1785
- By:
- Publication type:
- Article
Treacher Collins Syndrome may Result from Insertions, Deletions or Splicing Mutations, Which Introduce a Termination Codon into the Gene.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1533, doi. 10.1093/hmg/5.10.1533
- By:
- Publication type:
- Article
Autosomal dominant craniosynostosis of the sutura metopica.
- Published in:
- Clinical Genetics, 1990, v. 38, n. 5, p. 374, doi. 10.1111/j.1399-0004.1990.tb03598.x
- By:
- Publication type:
- Article