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Practices in synagogues regarding Jewish genetic disease education.
- Published in:
- Journal of Genetic Counseling, 2020, v. 29, n. 6, p. 1041, doi. 10.1002/jgc4.1232
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- Article
The current state of genetic counseling assistants in the United States.
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- Journal of Genetic Counseling, 2019, v. 28, n. 5, p. 962, doi. 10.1002/jgc4.1148
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- Publication type:
- Article
Natural History of Adrenal Steroidogenesis in Autoimmune Addison’s Disease Following Diagnosis and Treatment.
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- Journal of Clinical Endocrinology & Metabolism, 2020, v. 105, n. 7, p. 2322, doi. 10.1210/clinem/dgaa187
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- Publication type:
- Article
Natural History of Adrenal Steroidogenesis in Autoimmune Addison's Disease Following Diagnosis and Treatment.
- Published in:
- 2020
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- Publication type:
- journal article
Residual Adrenal Function in Autoimmune Addison's Disease-Effect of Dual Therapy With Rituximab and Depot Tetracosactide.
- Published in:
- 2019
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- Publication type:
- journal article
An Xp; Yq Translocation Causing a Novel Contiguous Gene Syndrome in Brothers with Generalized Epilepsy, Ichthyosis, and Attention Deficits.
- Published in:
- Epilepsia (Series 4), 2003, v. 44, n. 12, p. 1529, doi. 10.1111/j.0013-9580.2003.61702.x
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- Publication type:
- Article
Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1924, doi. 10.1002/ajmg.a.35477
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- Article
A Variant in the BACH2 Gene Is Associated With Susceptibility to Autoimmune Addison's Disease in Humans.
- Published in:
- 2016
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- Publication type:
- journal article
Impact of Month of Birth on the Risk of Development of Autoimmune Addison's Disease.
- Published in:
- 2016
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- Publication type:
- journal article
Diagnosis of Graves' Orbitopathy (DiaGO): Results of a Pilot Study to Assess the Utility of an Office Tool for Practicing Endocrinologists.
- Published in:
- 2015
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- Publication type:
- Journal Article
Residual adrenal function in autoimmune Addison's disease: improvement after tetracosactide (ACTH1-24) treatment.
- Published in:
- 2014
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- Publication type:
- journal article
Adrenal steroidogenesis after B lymphocyte depletion therapy in new-onset Addison's disease.
- Published in:
- 2012
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- Publication type:
- journal article
A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast.
- Published in:
- FEBS Journal, 2005, v. 272, n. 14, p. 3583, doi. 10.1111/j.1742-4658.2005.04779.x
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- Article
Correction: Linkage Analysis in Autoimmune Addison’s Disease: NFATC1 as a Potential Novel Susceptibility Locus.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138844
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- Publication type:
- Article
Linkage Analysis in Autoimmune Addison’s Disease: NFATC1 as a Potential Novel Susceptibility Locus.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0123550
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- Publication type:
- Article
Association of Autoimmune Addison's Disease with Alleles of STAT4 and GATA3 in European Cohorts.
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- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0088991
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- Publication type:
- Article
Programmed death ligand 1 (PD-L1) gene variants contribute to autoimmune Addison's disease and Graves' disease susceptibility.
- Published in:
- 2009
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- Publication type:
- journal article
Replication of association at the LPP and UBASH3A loci in a UK autoimmune Addison's disease cohort.
- Published in:
- European Journal of Endocrinology, 2023, v. 188, n. 1, p. 1, doi. 10.1093/ejendo/lvac010
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- Publication type:
- Article
Vitamin D status and pathway genes in five European autoimmune Addison's disease cohorts.
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- European Journal of Endocrinology, 2021, v. 184, n. 3, p. 377, doi. 10.1530/EJE-20-0956
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- Publication type:
- Article
The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease.
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- European Journal of Endocrinology, 2012, v. 167, n. 6, p. 825, doi. 10.1530/EJE-12-0579
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- Publication type:
- Article
A 4-Year-Old Amish Boy With Weakness, Arthritis, Rash, Verbal Delay, and Failure to Thrive.
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- Arthritis Care & Research, 2013, v. 65, n. 9, p. 1539, doi. 10.1002/acr.22019
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- Article
Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.
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- Birth Defects Research, 2020, v. 112, n. 4, p. 293, doi. 10.1002/bdr2.1648
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- Article
Introduction to the special issue on "Genetic Screening and Testing".
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- Birth Defects Research, 2020, v. 112, n. 4, p. 289, doi. 10.1002/bdr2.1637
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- Publication type:
- Article
Risk of suboptimal hormone replacement therapy for young hypogonadal women and transgender women in the wake of the Joint BMS FSRH RCGP RCOG SfE and RCN Women's Health Forum safety alert.
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- Clinical Endocrinology, 2023, v. 99, n. 3, p. 326, doi. 10.1111/cen.14937
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- Publication type:
- Article
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.
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- Pediatric Dermatology, 2015, v. 32, n. 5, p. e219, doi. 10.1111/pde.12634
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- Article
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
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- Clinical Genetics, 2021, v. 99, n. 4, p. 547, doi. 10.1111/cge.13912
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- Article
Future Research in Graves' Orbitopathy: From Priority Setting to Trial Design Through Patient and Public Involvement.
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- Thyroid, 2015, v. 25, n. 11, p. 1181, doi. 10.1089/thy.2015.0222
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- Publication type:
- Article
Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: Genotype-phenotype correlations.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 618, doi. 10.1002/ajmg.a.33816
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- Publication type:
- Article
Trends in thyroid hormone prescribing and consumption in the UK.
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- BMC Public Health, 2009, v. 9, n. 1, p. 1, doi. 10.1186/1471-2458-9-132
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- Publication type:
- Article
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 995, doi. 10.1002/humu.21000
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- Publication type:
- Article
Bovine model of Marfan syndrome results from an amino acid change (c.3598G>A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 348, doi. 10.1002/humu.20152
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- Publication type:
- Article
Identification of a Cancer-Predisposing Germline POT1 p.Ile49Metfs*7 Variant by Targeted Sequencing of a Splenic Marginal Zone Lymphoma.
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- Genes, 2022, v. 13, n. 4, p. 591, doi. 10.3390/genes13040591
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- Publication type:
- Article
Patient satisfaction and quality of life in hypothyroidism: An online survey by the british thyroid foundation.
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- Clinical Endocrinology, 2021, v. 94, n. 3, p. 513, doi. 10.1111/cen.14340
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- Article
Analysis of BAFF gene polymorphisms in UK Graves' disease patients.
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- Clinical Endocrinology, 2019, v. 90, n. 1, p. 170, doi. 10.1111/cen.13872
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- Article
Raising awareness of Graves' orbitopathy with early warning cards.
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- Clinical Endocrinology, 2017, v. 87, n. 6, p. 853, doi. 10.1111/cen.13438
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- Publication type:
- Article
Improving the prehospital safety of steroid-dependent patients in northern England: A hospital-initiated ambulance service registration pathway.
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- Clinical Endocrinology, 2017, v. 87, n. 6, p. 881, doi. 10.1111/cen.13455
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- Article
Subclinical hyperthyroidism: first do no harm.
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- Clinical Endocrinology, 2016, v. 85, n. 1, p. 15, doi. 10.1111/cen.13070
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- Publication type:
- Article
Spontaneous and tetracosactide-induced anti-ACTH antibodies in man.
- Published in:
- Clinical Endocrinology, 2016, v. 84, n. 4, p. 489, doi. 10.1111/cen.12795
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- Publication type:
- Article
Saving lives of in-patients with adrenal insufficiency: implementation of an alert scheme within the Newcastle-upon-Tyne Hospitals e-Prescribing platform.
- Published in:
- Clinical Endocrinology, 2014, v. 81, n. 6, p. 937, doi. 10.1111/cen.12457
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- Publication type:
- Article
The effect of B cell depletion therapy on anti- TSH receptor antibodies and clinical outcome in glucocorticoid-refractory Graves' orbitopathy.
- Published in:
- Clinical Endocrinology, 2013, v. 79, n. 3, p. 437, doi. 10.1111/cen.12141
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- Publication type:
- Article
The role of a nonsynonymous CD226 (DNAX-accessory molecule-1) variant (Gly 307Ser) in isolated Addison's disease and autoimmune polyendocrinopathy type 2 pathogenesis.
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- Clinical Endocrinology, 2011, v. 75, n. 2, p. 165, doi. 10.1111/j.1365-2265.2011.04030.x
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- Article
'Grading' subclinical thyroid disease may be misleading Authors' response to Goichot, Vinzio and Luca.
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- Clinical Endocrinology, 2011, v. 74, n. 1, p. 137, doi. 10.1111/j.1365-2265.2010.03895.x
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- Publication type:
- Article
How should we treat patients with low serum thyrotropin concentrations?
- Published in:
- Clinical Endocrinology, 2010, v. 72, n. 3, p. 292, doi. 10.1111/j.1365-2265.2009.03694.x
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- Publication type:
- Article