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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
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- Movement Disorders, 2024, v. 39, n. 1, p. 141, doi. 10.1002/mds.29651
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- Publication type:
- Article
Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders.
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- Human Molecular Genetics, 2023, v. 32, n. 22, p. 3123, doi. 10.1093/hmg/ddad079
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- Article
Autosomal dominant inheritance with sex‐limited manifestation: The jury is still out.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1675, doi. 10.1002/ajmg.a.63161
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- Article
Genetic defects are common in myopathies with tubular aggregates.
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- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 1, p. 4, doi. 10.1002/acn3.51477
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- Publication type:
- Article
Paternal somatogonadal COL2A1 mosaicism causing recurrence of severe type 2 collagenopathy.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2191, doi. 10.1002/ajmg.a.61763
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- Article
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
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- Human Mutation, 2020, v. 41, n. 9, p. 1615, doi. 10.1002/humu.24067
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- Article
Characterization of renal cell carcinoma‐associated constitutional chromosome abnormalities by genome sequencing.
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- Genes, Chromosomes & Cancer, 2020, v. 59, n. 6, p. 333, doi. 10.1002/gcc.22833
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- Article
A quick reference guide for rare disease: supporting rare disease management in general practice.
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- 2020
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- Publication type:
- journal article
Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers.
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- Journal of Pathology: Clinical Research, 2020, v. 6, n. 2, p. 146, doi. 10.1002/cjp2.155
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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.
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- Cerebellum, 2020, v. 19, n. 1, p. 161, doi. 10.1007/s12311-019-01085-7
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- 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.
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- Ulster Medical Journal, 2020, v. 89, n. 1, p. 14
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- Publication type:
- Article
Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care.
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- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01116
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- Publication type:
- Article
Association of prolactin receptor (PRLR) variants with prolactinomas.
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- Human Molecular Genetics, 2019, v. 28, n. 6, p. 1023, doi. 10.1093/hmg/ddy396
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- Publication type:
- Article
BIRTH RATE MAY INCREASE NINE MONTHS AFTER NATIONAL FOOTBALL SUCCESS.
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- 2019
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- Letter to the Editor
Zygodactyly (Syndactyly Type A1) Associated With Midfoot Charcot Neuropathy and Diabetes.
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- 2018
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- Case Study
Medical Myths and Legends.
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- Ulster Medical Journal, 2018, v. 87, n. 2, p. 102
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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.
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- 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
Cantú syndrome with coexisting familial pituitary adenoma.
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- Endocrine (1355008X), 2018, v. 59, n. 3, p. 677, doi. 10.1007/s12020-017-1497-9
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- Article
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
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- 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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- Article
Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.
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- Ulster Medical Journal, 2017, v. 86, n. 3, p. 185
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- Publication type:
- Article
Clinical and genetic characterization of leukoencephalopathies in adults.
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- 2017
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- Publication type:
- journal article
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.
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- Human Molecular Genetics, 2016, v. 25, n. 9, p. 1836, doi. 10.1093/hmg/ddw057
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- Publication type:
- Article
Learning And Improvement In Hereditary Diseases.
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- 2016
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- Publication type:
- Speech
Under the Mountain.
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- Ulster Medical Journal, 2016, v. 85, n. 1, p. 26
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- Publication type:
- Article
Epidemiology, Clinical Features, and Genetics of Multiple Endocrine Neoplasia Type 2B in a Complete Population.
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- Oncologist, 2014, v. 19, n. 12, p. 1284, doi. 10.1634/theoncologist.2014-0277
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- Publication type:
- Article
Germline FH mutations presenting with pheochromocytoma.
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- 2014
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- Publication type:
- journal article
Hereditary Gigantism--the biblical giant Goliath and his brothers.
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- Ulster Medical Journal, 2014, v. 83, n. 2, p. 86
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- Publication type:
- 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.
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- 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.
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- 2014
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- Publication type:
- journal article
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
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- 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 comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
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- 2013
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- Publication type:
- journal article
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
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- Clinical Endocrinology, 2013, v. 78, n. 6, p. 898, doi. 10.1111/cen.12074
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- Publication type:
- Article
Recurrence risk of congenital malformations in infants exposed to antiepileptic drugs in utero.
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- Epilepsia (Series 4), 2013, v. 54, n. 1, p. 165, doi. 10.1111/epi.12001
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- Publication type:
- Article
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
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- Nature Genetics, 2013, v. 45, n. 1, p. 93, doi. 10.1038/ng.2492
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- Article
Prevalence estimates of Huntington disease in Caucasian populations are gross underestimates.
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- Movement Disorders, 2012, v. 27, n. 13, p. 1707, doi. 10.1002/mds.25266
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- Publication type:
- Article
Faciocutaneous Cancer Syndromes: Spot the Diagnosis.
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- Oncologist, 2012, v. 17, n. 7, p. 886, doi. 10.1634/theoncologist.2012-0171
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- Publication type:
- Article
Constellation of Five Facial Features of Tuberous Sclerosis in a Child with a TSC2 1808AG Mutation.
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- Oncologist, 2012, v. 17, n. 7, p. 925, doi. 10.1634/theoncologist.2011-0407
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- Publication type:
- Article
Leydig Cell Tumor of the Testis in Tuberous Sclerosis: Lack of Second Hit Events.
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- 2012
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- Publication type:
- Case Study
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
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- Developmental Medicine & Child Neurology, 2012, v. 54, n. 6, p. 500, doi. 10.1111/j.1469-8749.2012.04224.x
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- Article
NEW CLINICAL GENETICS - 2nd EDITION.
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- 2012
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- Book Chapter
Familial Pediatric Endocrine Tumors.
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- Oncologist, 2011, v. 16, n. 10, p. 1388, doi. 10.1634/theoncologist.2011-0120
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- Publication type:
- Article
Giants of the British Isles.
- Published in:
- 2011
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- Publication type:
- Opinion
PRACTICAL GENETIC COUNSELLING (SEVENTH EDITION).
- Published in:
- 2011
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- Publication type:
- Book Review
The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study.
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- Ulster Medical Journal, 2010, v. 79, n. 3, p. 114
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- Publication type:
- Article
Advances in the Genetics of Familial Renal Cancer.
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- Oncologist, 2010, v. 15, n. 6, p. 532, doi. 10.1634/theoncologist.2010-0023
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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
Professor Frank Pantridge -- From beriberi to pre-hospital coronary care.
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- Ulster Medical Journal, 2010, v. 79, n. 1, p. 1
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- Publication type:
- Article
Frank Pantridge portrait unveiling -- a photo essay.
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- Ulster Medical Journal, 2010, v. 79, n. 1, p. 10
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- Publication type:
- Article
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
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- Human Mutation, 2010, v. 31, n. 1, p. 41, doi. 10.1002/humu.21136
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- Publication type:
- Article
The iris -- a window into the genetics of common and rare eye diseases.
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- Ulster Medical Journal, 2010, v. 79, n. 1, p. 3
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- Publication type:
- Article