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Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.
- Published in:
- Human Genetics, 2009, v. 126, n. 6, p. 791, doi. 10.1007/s00439-009-0730-x
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- Publication type:
- Article
Folate and human development: Edward J. Massaro, John M. Rogers (editors), Humana Press, ISBN 0-896-03936-6, Harcover, US$ 119.00.
- Published in:
- 2002
- By:
- Publication type:
- Book Review
Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
- Published in:
- 2019
- By:
- Publication type:
- corrected article
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.
- Published in:
- Human Reproduction, 2009, v. 24, n. 3, p. 741
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- 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
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- Publication type:
- Article
Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2).
- Published in:
- 2003
- By:
- Publication type:
- Letter
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 445, doi. 10.1038/ng.1105
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- Publication type:
- Article
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 356, doi. 10.1038/ng.775
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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
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 35, doi. 10.1002/ajmg.b.32582
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- Publication type:
- Article
Genetics.
- Published in:
- 1995
- By:
- Publication type:
- Book Review
Chorionic villus sampling for prenatal diagnosis in Wales using DNA probes--5 years' experience.
- Published in:
- 1990
- By:
- Publication type:
- journal article
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-15
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- Publication type:
- Article
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Morbidity associated with tuberous sclerosis: a population study.
- Published in:
- 1996
- By:
- Publication type:
- journal article
Mutations in the chromatin-associated protein ATRX.
- Published in:
- 2008
- By:
- Publication type:
- Other
Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: Characterisation of 6 novel mutations.
- Published in:
- Human Mutation, 1999, v. 14, n. 1, p. 87, doi. 10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU14>3.0.CO;2-N
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- Publication type:
- Article
Book Review: Juvenile Huntington’s Disease and Other Trinucleotide Repeat Disorders.
- Published in:
- 2010
- By:
- Publication type:
- Book Review
Antenatal Screening and Abortion for Fetal Abnormality.
- Published in:
- 1997
- By:
- Publication type:
- Book Review
The genetic testing of children.
- Published in:
- Journal of the Royal Society of Medicine, 1997, v. 90, n. 8, p. 419, doi. 10.1177/014107689709000802
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- Publication type:
- Article
Epidemiology of Tuberous Sclerosis.
- Published in:
- Annals of the New York Academy of Sciences, 1991, v. 615, n. 1, p. 125, doi. 10.1111/j.1749-6632.1991.tb37754.x
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- Publication type:
- Article
Connecting with connexins.
- Published in:
- Australasian Journal of Dermatology, 2013, v. 54, n. 4, p. 287, doi. 10.1111/ajd.12070
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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
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2231, doi. 10.1002/ajmg.a.37189
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- Publication type:
- Article
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1666, doi. 10.1002/ajmg.a.36513
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- Publication type:
- Article
Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1117, doi. 10.1002/ajmg.a.35791
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- Publication type:
- Article
Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 417, doi. 10.1002/ajmg.a.35765
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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
Mutational analysis of familial and sporadic hyperekplexia.
- Published in:
- Annals of Neurology, 1995, v. 38, n. 1, p. 85, doi. 10.1002/ana.410380115
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- Publication type:
- Article
Multilocus Linkage Identifies Two New Loci for a Mendelian Form of Stroke, Cerebral Cavernous Malformation, at 7p15–13 and 3q25.2–27.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 12, p. 1851, doi. 10.1093/hmg/7.12.1851
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- Publication type:
- Article
Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 12, p. 1851, doi. 10.1093/hmg/7.12.1851
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- Publication type:
- Article
The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1991, doi. 10.1093/hmg/6.11.1991
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- Publication type:
- Article
Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 5, p. 963
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- Publication type:
- Article
Epilepsy in the Freeman Sheldon Syndrome.
- Published in:
- Journal of Child Neurology, 1995, v. 10, n. 4, p. 335, doi. 10.1177/088307389501000421
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- Publication type:
- Article