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Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care.
- Published in:
- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01116
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- Publication type:
- Article
Clinical and genetic characterization of leukoencephalopathies in adults.
- Published in:
- 2017
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- Publication type:
- journal article
Recurrence risk of congenital malformations in infants exposed to antiepileptic drugs in utero.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 1, p. 165, doi. 10.1111/epi.12001
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- Publication type:
- Article
U.K. Epilepsy and Pregnancy Group.
- Published in:
- Epilepsia (Series 4), 2004, v. 45, n. 11, p. 1467, doi. 10.1111/j.0013-9580.2004.451104.x
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- Publication type:
- Article
Effective coordination, collaboration, communication, and partnering are needed to close the gaps for occupational PFAS exposure.
- Published in:
- American Journal of Industrial Medicine, 2023, v. 66, n. 5, p. 351, doi. 10.1002/ajim.23348
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- Publication type:
- Article
Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.
- Published in:
- Cerebellum, 2020, v. 19, n. 1, p. 161, doi. 10.1007/s12311-019-01085-7
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- Publication type:
- Article
Ethical, Social and Economic Issues in Familial Breast Cancer: a compilation of views from the E.C. Biomed II Demonstration Project.
- Published in:
- Disease Markers, 1999, v. 15, n. 1-3, p. 125, doi. 10.1155/1999/564893
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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
Correction: Aboriginal artefacts on the continental shelf reveal ancient drowned cultural landscapes in northwest Australia.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Autosomal dominant inheritance with sex‐limited manifestation: The jury is still out.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1675, doi. 10.1002/ajmg.a.63161
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- Publication type:
- Article
Paternal somatogonadal COL2A1 mosaicism causing recurrence of severe type 2 collagenopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2191, doi. 10.1002/ajmg.a.61763
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- Publication type:
- Article
Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1029, doi. 10.1002/ajmg.a.38624
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- Publication type:
- Article
Zygodactyly is strongly associated with Acute Myeloid Leukaemia.
- Published in:
- British Journal of Haematology, 2017, v. 177, n. 4, p. 659, doi. 10.1111/bjh.14096
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- Publication type:
- Article
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
- Published in:
- Nature Genetics, 2013, v. 45, n. 1, p. 93, doi. 10.1038/ng.2492
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- Publication type:
- Article
Germline FH mutations presenting with pheochromocytoma.
- Published in:
- 2014
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- Publication type:
- journal article
Clinical Experience in the Screening and Management of a Large Kindred With Familial Isolated Pituitary Adenoma Due to an Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutation.
- Published in:
- 2014
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- Publication type:
- Journal Article
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.
- Published in:
- 2014
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- Publication type:
- journal article
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
- Published in:
- 2013
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- Publication type:
- journal article
Characterization of renal cell carcinoma‐associated constitutional chromosome abnormalities by genome sequencing.
- Published in:
- Genes, Chromosomes & Cancer, 2020, v. 59, n. 6, p. 333, doi. 10.1002/gcc.22833
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- Publication type:
- Article
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 6, p. 500, doi. 10.1111/j.1469-8749.2012.04224.x
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- Publication type:
- Article
Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3.
- Published in:
- 2010
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- Publication type:
- journal article
Family communication, genetic testing and colonoscopy screening in hereditary non-polyposis colon cancer: a qualitative study.
- Published in:
- Psycho-Oncology, 2009, v. 18, n. 11, p. 1208, doi. 10.1002/pon.1487
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- Publication type:
- Article
An improved text classification modelling approach to identify security messages in heterogeneous projects.
- Published in:
- Software Quality Journal, 2021, v. 29, n. 2, p. 509, doi. 10.1007/s11219-020-09546-7
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- Publication type:
- Article
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.
- Published in:
- Human Genetics, 2012, v. 131, n. 12, p. 1833, doi. 10.1007/s00439-012-1205-z
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- Publication type:
- Article
Moyra Smith: Translational research in genetics and genomics.
- Published in:
- 2009
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- Publication type:
- Book Review
A breath of fresh air: Respiratory Genetics.
- Published in:
- 2006
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- Publication type:
- Book Review
A classic genetic text about classic genetic texts.
- Published in:
- 2005
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- Publication type:
- Book Review
Genetic professionals'reports of nondisclosure of genetic risk information within families.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 556, doi. 10.1038/sj.ejhg.5201394
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- Publication type:
- Article
Genetics of mitochondrial diseases.
- Published in:
- 2004
- By:
- Publication type:
- Book Review
Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
- Published in:
- BMC Genomics, 2005, v. 6, p. 1, doi. 10.1186/1471-2164-6-38
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- Publication type:
- Article
Quantitative measures of gastrovascular flow in octocorals and hydroids: toward a comparative biology of transport systems in cnidarians.
- Published in:
- Invertebrate Biology, 2013, v. 132, n. 4, p. 291, doi. 10.1111/ivb.12028
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- Publication type:
- Article
Aboriginal artefacts on the continental shelf reveal ancient drowned cultural landscapes in northwest Australia.
- Published in:
- PLoS ONE, 2020, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0233912
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- Publication type:
- Article
The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults.
- Published in:
- Journal of Genetic Counseling, 2015, v. 24, n. 6, p. 931, doi. 10.1007/s10897-015-9829-5
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- Publication type:
- Article
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3106, doi. 10.1093/brain/awt236
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- Publication type:
- Article
A quick reference guide for rare disease: supporting rare disease management in general practice.
- Published in:
- 2020
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- Publication type:
- journal article
Natural history of a fibrous cephalic plaque and sustained eight decade follow-up in an 80 year old with tuberous sclerosis complex type 2.
- Published in:
- Ulster Medical Journal, 2020, v. 89, n. 1, p. 14
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- Publication type:
- Article
BIRTH RATE MAY INCREASE NINE MONTHS AFTER NATIONAL FOOTBALL SUCCESS.
- Published in:
- 2019
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- Publication type:
- Letter to the Editor
Medical Myths and Legends.
- Published in:
- Ulster Medical Journal, 2018, v. 87, n. 2, p. 102
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- Publication type:
- Article
Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.
- Published in:
- Ulster Medical Journal, 2017, v. 86, n. 3, p. 185
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- Publication type:
- Article
Learning And Improvement In Hereditary Diseases.
- Published in:
- 2016
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- Publication type:
- Speech
Under the Mountain.
- Published in:
- Ulster Medical Journal, 2016, v. 85, n. 1, p. 26
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- Publication type:
- Article
Hereditary Gigantism--the biblical giant Goliath and his brothers.
- Published in:
- Ulster Medical Journal, 2014, v. 83, n. 2, p. 86
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- Publication type:
- Article
NEW CLINICAL GENETICS - 2nd EDITION.
- Published in:
- 2012
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- Publication type:
- Book Chapter
PRACTICAL GENETIC COUNSELLING (SEVENTH EDITION).
- Published in:
- 2011
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- Publication type:
- Book Review
Giants of the British Isles.
- Published in:
- 2011
- By:
- Publication type:
- Opinion
J Mark Gibson MD FRCP FRCPI (1953-2010).
- Published in:
- 2011
- By:
- Publication type:
- Obituary
The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study.
- Published in:
- Ulster Medical Journal, 2010, v. 79, n. 3, p. 114
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- Publication type:
- Article
Professor Frank Pantridge -- From beriberi to pre-hospital coronary care.
- Published in:
- Ulster Medical Journal, 2010, v. 79, n. 1, p. 1
- By:
- Publication type:
- Article
Frank Pantridge portrait unveiling -- a photo essay.
- Published in:
- Ulster Medical Journal, 2010, v. 79, n. 1, p. 10
- By:
- Publication type:
- Article
THE HEALTH PRACTITIONER'S GUIDE TO CLIMATE CHANGE. DIAGNOSIS AND CURE.
- Published in:
- 2010
- By:
- Publication type:
- Book Review