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Insights into the Burden of T1D: Genetic Links and Familial Considerations from UCSD Practitioners.
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- Patient Care (Online), 2024, p. 1
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- Publication type:
- Article
Relationship between insight level and clinical and familial features in pediatric obsessive-compulsive disorder.
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- Northern Clinics of Istanbul, 2023, v. 10, n. 3, p. 289, doi. 10.14744/nci.2021.91979
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- Publication type:
- Article
Qualitative development of the PROMIS Profile v1.0-Familial Chylomicronemia Syndrome (FCS) 28.
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- Quality of Life Research, 2023, v. 32, n. 2, p. 605, doi. 10.1007/s11136-022-03266-0
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- Article
Familial acute aortic dissection associated with a novel ACTA2 germline variant.
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- 2023
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- Publication type:
- Case Study
The ATP1A2 Mutation Associated with Hemiplegic Migraines: Case Report and Literature Review.
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- 2022
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- Publication type:
- Case Study
A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene.
- Published in:
- 2022
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- Publication type:
- Case Study
Familial Neuromyelitis Optica: A Case Report and Literature Review.
- Published in:
- 2022
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- Publication type:
- Case Study
Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey.
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- Journal of Clinical Research in Pediatric Endocrinology, 2022, v. 14, n. 3, p. 350, doi. 10.4274/jcrpe.galenos.2021.2020.0301
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- Article
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
- Published in:
- 2021
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- Publication type:
- Case Study
ELECTRA LOST IN TRANSIT.
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- Ramus, 2021, v. 50, n. 1/2, p. 11, doi. 10.1017/rmu.2021.4
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- Publication type:
- Article
Lipoprotein(a), LDL-cholesterol, and hypertension: predictors of the need for aortic valve replacement in familial hypercholesterolaemia.
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- European Heart Journal, 2021, v. 42, n. 22, p. 2201, doi. 10.1093/eurheartj/ehaa1066
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- Article
Severe calcification of the Achilles' tendon.
- Published in:
- 2021
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- Publication type:
- Case Study
The Management of Prodromal Symptoms of Bipolar Disorder: Available Options and Future Perspectives.
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- Medicina (1010660X), 2021, v. 57, n. 6, p. 1, doi. 10.3390/medicina57060545
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- Publication type:
- Article
An unusual case of multiple grouped non-familial trichoepitheliomas.
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- Dermatology Online Journal, 2021, v. 27, n. 5, p. 1, doi. 10.5070/d327553615
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- Publication type:
- Article
Two cases of familial hypercholesterolemia with premature acute coronary syndrome: Case report.
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- Journal of Hainan Medical University, 2021, v. 27, n. 7, p. 54
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- Publication type:
- Article
Rationale and design of a type 2 diabetes prevention intervention for at-risk mothers and children at a Federally Qualified Healthcare Center: EPIC El Rio Families Study Protocol.
- Published in:
- 2021
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- Publication type:
- journal article
Insight into the genetic etiology of Alzheimer’s disease: A comprehensive review of the role of rare variants.
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- Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021, v. 13, n. 1, p. 1, doi. 10.1002/dad2.12155
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- Publication type:
- Article
Familial hypercholesterolaemia and cascade testing in general practice: Lessons from COVID-19.
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- Australian Journal of General Practice, 2020, v. 49, n. 12, p. 859, doi. 10.31128/ajgp-07-20-5517
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- Publication type:
- Article
Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.
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- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73190-1
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- Publication type:
- Article
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65737-z
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- Publication type:
- Article
Hereditary Trichilemmal Cysts are Caused by Two Hits to the Same Copy of the Phospholipase C Delta 1 Gene (PLCD1).
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-62959-z
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- Publication type:
- Article
Misleading symptoms of hereditary angioedema type II mimicking familial mediterranean fever.
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- Acta Reumatológica Portuguesa, 2020, v. 45, n. 2, p. 143
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- Publication type:
- Article
A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres.
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- Thyroid, 2020, v. 30, n. 2, p. 204, doi. 10.1089/thy.2019.0156
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- Publication type:
- Article
Isolated Voice Tremor: A Clinical Variant of Essential Tremor or a Distinct Clinical Phenotype?
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- Tremor & Other Hyperkinetic Movements, 2020, p. 1, doi. 10.7916/tohm.v0.738
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- Publication type:
- Article
Lower risk of smoking-related cancer in individuals with familial hypercholesterolemia compared with controls: a prospective matched cohort study.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55682-x
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- Publication type:
- Article
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.
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- Clinical Genetics, 2019, v. 96, n. 6, p. 521, doi. 10.1111/cge.13635
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- Publication type:
- Article
MANSUR BABA SOYUNDAN GELEN BİR ŞİFA OCAĞI: ŞAH PABUCU.
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- Turkish Culture & Haci Bektas Veli Research Quarterly, 2019, n. 92, p. 127, doi. 10.34189/hbv.92.008
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- Publication type:
- Article
The Nordic Twin Study on Cancer - NorTwinCan.
- Published in:
- 2019
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- Publication type:
- journal article
Different phenotypes of gastric fundic gland polyposis and cancer in patients with familial adenomatous polyposis depending on Helicobacter pylori infection.
- Published in:
- Gastric Cancer, 2019, v. 22, n. 6, p. 1294, doi. 10.1007/s10120-019-01005-y
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- Publication type:
- Article
Through the Stomach to the Heart: Practices of Kinship of Families of Choice in Poland.
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- Lambda Nordica, 2019, v. 24, n. 2/3, p. 104
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- Publication type:
- Article
Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.
- Published in:
- 2019
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- Publication type:
- journal article
Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.
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- Clinical Genetics, 2019, v. 95, n. 2, p. 334, doi. 10.1111/cge.13456
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- Publication type:
- Article
Aortic valve calcium score in hypercholesterolemic patients with and without low-density lipoprotein receptor gene mutation.
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- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0209229
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- Publication type:
- Article
Familial episodic limb pain in kindreds with novel Nav1.9 mutations.
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- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0208516
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- Publication type:
- Article
Sensory nerve degeneration in a mouse model mimicking early manifestations of familial amyloid polyneuropathy due to transthyretin Ala97Ser.
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- Neuropathology & Applied Neurobiology, 2018, v. 44, n. 7, p. 673, doi. 10.1111/nan.12477
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- Publication type:
- Article
Cu/Zn-superoxide dismutase forms fibrillar hydrogels in a pH-dependent manner via a water-rich extended intermediate state.
- Published in:
- PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205090
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- Publication type:
- Article
CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters.
- Published in:
- Acta Dermato-Venereologica, 2018, v. 98, n. 9, p. 862, doi. 10.2340/00015555-2969
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- Publication type:
- Article
An online self‐test added to colorectal cancer screening can increase the effectiveness of familial cancer risk assessment without increasing distress.
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- Colorectal Disease, 2018, v. 20, n. 10, p. 897, doi. 10.1111/codi.14319
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- Publication type:
- Article
A neoepitope derived from a novel human germline APC gene mutation in familial adenomatous polyposis shows selective immunogenicity.
- Published in:
- PLoS ONE, 2018, v. 13, n. 9, p. 1, doi. 10.1371/journal.pone.0203845
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- Publication type:
- Article
Fatal unexpected death due to familial hemophagocytic lymphohistiocytosis type 3.
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- Forensic Science, Medicine & Pathology, 2018, v. 14, n. 3, p. 372, doi. 10.1007/s12024-018-9986-6
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- Publication type:
- Article
Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia.
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- Healthcare (2227-9032), 2018, v. 6, n. 3, p. 108, doi. 10.3390/healthcare6030108
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- Publication type:
- Article
A rare presentation of keratosis follicularis spinulosa decalvans in female twins.
- Published in:
- 2018
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- Publication type:
- case study
Identification of a novel breast cancer‑causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report.
- Published in:
- 2018
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- Publication type:
- Case Study
Activation of Phosphotyrosine-Mediated Signaling Pathways in the Cortex and Spinal Cord of SOD1<sup>G93A</sup>, a Mouse Model of Familial Amyotrophic Lateral Sclerosis.
- Published in:
- Neural Plasticity, 2018, p. 1, doi. 10.1155/2018/2430193
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- Publication type:
- Article
Endoscopic Ultrasound Features of Multiple Endocrine Neoplasia Type 1-Related versus Sporadic Pancreatic Neuroendocrine Tumors: A Single-Center Retrospective Study.
- Published in:
- Digestion, 2018, v. 98, n. 2, p. 112, doi. 10.1159/000487939
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- Publication type:
- Article
Blood–brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations.
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- European Journal of Neurology, 2018, v. 25, n. 8, p. e86, doi. 10.1111/ene.13656
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- Publication type:
- Article
A case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Familial Hypercholesterolemia: New Horizons for Diagnosis and Effective Management.
- Published in:
- Frontiers in Pharmacology, 2018, p. N.PAG, doi. 10.3389/fphar.2018.00707
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- Publication type:
- Article
Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 7, p. 1, doi. 10.1371/journal.pgen.1007394
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- Publication type:
- Article
Study protocol of the RaPS study: novel risk adapted prevention strategies for people with a family history of colorectal cancer.
- Published in:
- 2018
- By:
- Publication type:
- journal article