المؤلفون: Edward S. Tobias, Elena Avram, Patricia Calapod, Christophe Cordier, Johan T. den Dunnen, Can Ding, Vita Dolzan, Sofia Douzgou Houge, Sally Ann Lynch, James O’Byrne, Philippos Patsalis, Inga Prokopenko, Celia A. Soares, Adam P. Tobias, William G. Newman

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: education, genomics, European Society of Human Genetics, Education Committee, EuroGEMS, massive open online course, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.693952/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/0ef6e6f826564a30b84367a9aba6aaaa

المؤلفون: Adam P. Tobias, Jonathan Berg, Roseanne Cetnarskyj, Zosia Miedzybrodzka, Mary E. Porteous, Edward S. Tobias

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: COVID–19, online, genetics, education, coronavirus, genomics, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.621683/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/ca69cccd16a640f591f4498043df621a

المؤلفون: Andy Greenfield, Pawel Herzyk, Angela K Lucas-Herald, Ruth McGowan, Scottish Genomes Partnership SGP, Rhian M Touyz, Nicola Williams, Edward S Tobias, Danielle Sagar, Augusto C Montezano, Francisco J Rios, Livia de Lucca Camargo, Graham Hamilton, Gabriella Gazdagh

المصدر: Journal of the Endocrine Society. 6:A623-A624

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b7e100556f34423184ca5f29659dba7b
https://doi.org/10.1210/jendso/bvac150.1293

المؤلفون: Jane McNeilly, Ruth McGowan, Edward S. Tobias, Malika Alimussina, Martin McMillan, Louise A Diver, Sandra Chudleigh, Ahmed S Faisal

المصدر: Endocrine Abstracts.

مصطلحات موضوعية: Androgen receptor, Genetics, medicine.drug_class, Atypical Genitalia, Genetic variants, medicine, Biology, Androgen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf46b766ae77cb9b06dd7eac8d4a8a29
https://doi.org/10.1530/endoabs.78.oc5.3

المؤلفون: Edward S. Tobias, Cunyi Wang, Ruth McGowan, Gabriella E. Gazdagh, Syed Faisal Ahmed

المصدر: Clinical Dysmorphology. 28:112-117

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Cardiovascular Abnormalities, Pathology and Forensic Medicine, Humans, Medicine, Structural brain abnormalities, Sex organ, Child, Cardiac disorders, Genetics (clinical), Retrospective Studies, Hypospadias, Retrospective review, business.industry, Brain, General Medicine, medicine.disease, Phenotype, Neurodevelopmental Disorders, Child, Preschool, Urogenital Abnormalities, Pediatrics, Perinatology and Child Health, Cohort, Etiology, Female, Anatomy, Abnormality, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94213e70a3cc0052d7d7ada928132ca5
https://doi.org/10.1097/mcd.0000000000000275

المؤلفون: Sylvia A Metcalfe, Andrew Mallett, Bronwyn Terrill, Ken Knight, Edward S. Tobias, Martina C. Cornel, Gunjan Garg, Debra Graves, Ingrid B. Sinnerbrink, Vajira H. W. Dissanayake, Kristine Barlow-Stewart, Helen Jordan, Kate Dunlop, June C. Carroll, Tina-Marié Wessels, Andrea Belcher, Nicola Mulder, Jane Maguire, Russell Gear, Emma Tonkin, Chirag Patel, Amy Nisselle, Dhavendra Kumar, Steve Trumble, Maria C. McCarthy, Alison McEwen, Kate Reed, Nadia Kaunein, Mercy Y. Laurino, Catherine Quinlan, Belinda J McClaren, Bruce R. Korf, Clara Gaff, Michelle Bishop, Monika Janinski, Anne Slavotinek, Vijayaprakash Suppiah, Melissa Martyn, John A. Bernat, Alan Ma, Erin Rooney Riggs, Agnes E. Dodds, Stephanie Best

المساهمون: Human genetics, APH - Personalized Medicine, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Nisselle, Amy, Janinski, Monika, Martyn, Melissa, McClaren, Belinda, Suppiah, Vijayaprakash, Gaff, Clara

المصدر: Genetics in Medicine, 23(7), 1356-1365. Lippincott Williams and Wilkins
Reporting Item Standards for Education and its Evaluation in Genomics Expert Group 2021, ' Ensuring best practice in genomics education and evaluation : reporting item standards for education and its evaluation in genomics (RISE2 Genomics) ', Genetics in Medicine, vol. 23, no. 7, pp. 1356-1365 . https://doi.org/10.1038/s41436-021-01140-x

مصطلحات موضوعية: 0301 basic medicine, Best practice, Psychological intervention, Medical laboratory, Delphi method, Stakeholder engagement, research report, 030105 genetics & heredity, law.invention, 03 medical and health sciences, law, Delphi technique, genomics, humans, adoption, Genetics (clinical), Medical education, business.industry, stakeholder participation, Transparency (behavior), 030104 developmental biology, consensus, Workforce, CLARITY, Psychology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36babd396b3903ce4d8d01c36b6e34b8
https://research.vumc.nl/en/publications/7c35738c-35fe-4f01-8d9a-19fa064d5dae

المؤلفون: Edward S. Tobias, Adam P. Tobias

المصدر: Human mutationREFERENCES. 41(12)

مصطلحات موضوعية: 0303 health sciences, Internet, Internationality, 030305 genetics & heredity, Target audience, Genomics, Biology, Human genetics, Variety (cybernetics), World Wide Web, 03 medical and health sciences, Educational resources, Web page, Genetics, Genetics (clinical), 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55d6a710abb610c3a3e11b250fa0c795
https://pubmed.ncbi.nlm.nih.gov/32906220

المؤلفون: Edward S. Tobias, Donald G. Grosset, Vanessa Pitz, Katherine A Grosset, Naveed Malek, Steve M. Gentleman

المصدر: Mov Disord Clin Pract

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Levodopa, Disease onset, Parkinson's disease, ACCURACY, FEATURES, Clinical Neurology, PROGRESSION, Disease, 030105 genetics & heredity, DIAGNOSIS, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, L-dopa response, Dementia, Pathological, Case Series with Literature Review, Binary response, Science & Technology, business.industry, DEMENTIA, medicine.disease, nervous system diseases, Neurology, LEWY-BODY DISEASE, L‐dopa response, pathological, Neurology (clinical), Neurosciences & Neurology, business, Life Sciences & Biomedicine, 030217 neurology & neurosurgery, medicine.drug, Biomedical sciences

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24af32c0f165879e57b91826f4dc94f2
http://hdl.handle.net/10044/1/80252

المؤلفون: Kathleen A. Williamson, Joseph A. Marsh, Gabriele Gillessen-Kaesbach, Simon Bodek, H Nikki Hall, Shane McKee, Patrick Edery, Liusaidh J Owen, Dragana Josifova, Françoise Meire, Jane A. Hurst, Joke B. G. M. Verheij, G G W Adams, Richard Fisher, Veronica van Heyningen, Benjamin J Livesey, David R. FitzPatrick, Charlotte Reiff, Bruce Castle, Edward S. Tobias, Birgit Lorenz, Alexander T Deng, Isabel M. Hanson, Michael P. Clarke, Marjolaine Willems, Anthony T. Moore, Jay E. Self, Michael W. Parker, Denise Williams, Elise Heon, Patrick Calvas

المصدر: Williamson, K, Hall, H N, Owen, L, Livesey, B, Hanson, I, Adams, G G W, Bodek, S, Calvas, P, Castle, B, Clarke, M, Deng, A T, Edery, P, Fisher, R, Gillessen-Kaesbach, G, Héon, E, Hurst, J, Josifova, D, Lorenz, B, McKee, S, Meire, F, Moore, A T, Parker, M, Reiff, C, Self, J, Tobias, E S, Verheij, J B G M, Willems, M, Williams, D, Van Heyningen, V, Marsh, J A & FitzPatrick, D R 2019, ' Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0685-9
Genetics in Medicine
Genetics in medicine

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Génétique clinique, Adolescent, PAX6 Transcription Factor, Mutation, Missense, 030105 genetics & heredity, Biology, Microphthalmia, Article, Cohort Studies, Young Adult, 03 medical and health sciences, medicine, Humans, Microphthalmos, Missense mutation, Genetic Predisposition to Disease, Eye Abnormalities, Child, protein destabilization, Genetics (clinical), Genetics, Coloboma, Binding Sites, Anophthalmia, Infant, missense variant, medicine.disease, eye diseases, Pedigree, PAX6, 3. Good health, DNA-Binding Proteins, paired domain, 030104 developmental biology, microphthalmia, Protein destabilization, Aniridia, Child, Preschool, Female, sense organs, Haploinsufficiency

وصف الملف: application/pdf; text; 1 full-text file(s): application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444e2433a7826bd8fdab584eb7721334
https://www.pure.ed.ac.uk/ws/files/120428082/s41436_019_0685_9.pdf

المؤلفون: Gabriella E. Gazdagh, Edward S. Tobias, Syed Faisal Ahmed, Ruth McGowan

المصدر: Sexual Development

مصطلحات موضوعية: Male, 0301 basic medicine, Embryology, Genotype, Range (biology), Endocrinology, Diabetes and Metabolism, Disorders of Sex Development, 030105 genetics & heredity, Biology, Developmental genes, 03 medical and health sciences, medicine, Genetic associations, Humans, In patient, Genitalia, Disorders of sex development, Genital abnormality, Genetics, Hypospadias, Retrospective review, Sexual Development, equipment and supplies, medicine.disease, Phenotype, 3. Good health, Disorders of sex development genes, Neurodevelopmental Disorders, Mutation, Original Article, Female, DDD study, Mutations, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cac32ff236c51372ae7cdfded48ee2ba
https://doi.org/10.1159/000447958

المؤلفون: Jill Clayton-Smith, Mariet W. Elting, Rutger A.J. Nievelstein, Linda Goodwin, Andreas Zankl, Paul Coucke, Paulien A. Terhal, Susan Price, Anne Dieux, Valérie Cormier-Daire, Eva J J Verver, Louise C. Wilson, Edward S. Tobias, Sahar Mansour, Niels Thomas Hertel, Maaike Vreeburg, Johanna C. Herkert, Emma Wakeling, Nicolette S. den Hollander, Elizabeth Thompson, Bronwyn Kerr, Marleen Simon, Nine V A M Knoers, Hanne Hove, Mohnish Suri, Tessa Homfray, Frances Elmslie, Raoul C.M. Hennekam, Muriel Holder-Espinasse, Jane A. Hurst, Sarah F. Smithson, André Mégarbané, Yasemin Alanay, Melissa Lees, Vedat Topsakal, Annick Raas-Rothschild, Marianne Rohrbach, Allan M. Lund, Barbara Schroeter, Hermine E. Veenstra-Knol, Regina C. Betz, Johanna M. van Hagen, Annick Toutain, Geert Mortier, Paula van Dommelen, Alison Male, Andrew Green, Kristien Hoornaert, Ernie M.H.F. Bongers, Annemarie H. van der Hout, Albert David, Goeran Anneren, Martine Le Merrer, Jenneke van den Ende, Esther Kinning, Carlo Marcelis

المساهمون: Surgical clinical sciences, Ear, nose & throat, Acibadem University Dspace, Clinical Genetics, Human genetics, Other Research, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics

المصدر: American Journal of Medical Genetics. Part A, 167A, 461-75
Terhal, P A, Nievelstein, R J A J, Verver, E J J, Topsakal, V, van Dommelen, P, Hoornaert, K, Le Merrer, M, Zankl, A, Simon, M E H, Smithson, S F, Marcelis, C, Kerr, B, Clayton-Smith, J, Kinning, E, Mansour, S, Elmslie, F, Goodwin, L, van der Hout, A H, Veenstra-Knol, H E, Herkert, J C, Lund, A M, Hennekam, R C M, Megarbane, A, Lees, M M, Wilson, L C, Korteland-van Male, A, Hurst, J, Alanay, Y, Anneren, G, Betz, R C, Bongers, E M H F, Cormier-Daire, V, Dieux, A, David, A, Elting, M W, van den Ende, J, Green, A, van Hagen, J M, Hertel, N T, Holder-Espinasse, M, den Hollander, N, Homfray, T, Hove, H D, Price, S, Raas-Rothschild, A, Rohrbach, M, Schroeter, B, Suri, M, Thompson, E M, Tobias, E S, Toutain, A, Vreeburg, M, Wakeling, E, Knoers, N V, Coucke, P & Mortier, G R 2015, ' A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype ', American Journal of Medical Genetics Part A, vol. 167, no. 3, pp. 461-475 . https://doi.org/10.1002/ajmg.a.36922
American Journal of Medical Genetics Part A, 3, 167, 1-15
American journal of medical genetics : part A
American Journal of Medical Genetics. Part A, 167A(3), 461. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 167A(3), 461-475. Wiley
Terhal, P A, Nievelstein, R J A J, Verver, E J J, Topsakal, V, van Dommelen, P, Hoornaert, K, Le Merrer, M, Zankl, A, Simon, M E H, Smithson, S F, Marcelis, C, Kerr, B, Clayton-Smith, J, Kinning, E, Mansour, S, Elmslie, F, Goodwin, L, van der Hout, A H, Veenstra-Knol, H E, Herkert, J C, Lund, A M, Hennekam, R C M, Mégarbané, A, Lees, M M, Wilson, L C, Male, A, Hurst, J, Alanay, Y, Annerén, G, Betz, R C, Bongers, E M H F, Cormier-Daire, V, Dieux, A, David, A, Elting, M W, van den Ende, J, Green, A, van Hagen, J M, Hertel, N T, Holder-Espinasse, M, den Hollander, N, Homfray, T, Hove, H D, Price, S, Raas-Rothschild, A, Rohrbach, M, Schroeter, B, Suri, M, Thompson, E M, Tobias, E S, Toutain, A, Vreeburg, M, Wakeling, E, Knoers, N V, Coucke, P & Mortier, G R 2015, ' A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype ', American Journal of Medical Genetics. Part A, vol. 167, no. 3, pp. 461-475 . https://doi.org/10.1002/ajmg.a.36922
American Journal of Medical Genetics Part A, 167(3), 461-475. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 167A, 3, pp. 461-75
American Journal of Medical Genetics Part A, 167(3), 461-475
American journal of medical genetics. Part A, 167(3), 461-475. Wiley-Liss Inc.

مصطلحات موضوعية: Male, Hypermetropia, DNA Mutational Analysis, Review, Gene, Osteochondrodysplasias/congenital, Spondyloepiphyseal dysplasia, Genetics(clinical), Child, SEDC, COL2A1 gene, Bronchomalacia, Atlantoaxial dislocation, Pierre Robin syndrome, Osteotomy, Scoliosis, Health, Cleft palate, Spondyloepiphyseal dysplasia congenita, II COLLAGEN, Cohort studies, Hip arthroplasty, SKELETAL DYSPLASIA, Procollagen, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], medicine.medical_specialty, COL2A1, Glycine, Major clinical study, Osteochondrodysplasias, Behavioural Changes, SDG 3 - Good Health and Well-being, Genetics, spondyloepiphyseal dysplasia, Humans, Genotype phenotype correlation, Collagen Type II, Aged, Tracheomalacia, Infant, medicine.disease, Otorhinolaryngology, DEFECT, Collagen disorder, School child, Human medicine, mutation, MYELOPATHY, Pediatrics, Amino acid substitution, Spondyloperipheral dysplasia, LS - Life Style, surgery, Tracheostomy, Serine, Myopia, Missense mutation, RETINAL-DETACHMENT, Non-U.S. Gov't, Genetics (clinical), Heterozygosity, Research Support, Non-U.S. Gov't, Odontoid Hypoplasia, Middle Aged, genotype-phenotype, Clubfoot, Phenotype, KNIEST-DYSPLASIA, young adult, Female, medicine.symptom, Collagen Type II/genetics, Healthy Living, radiography, Adult, EXPRESSION, Retina detachment, Child, preschool, Adolescent, review, Population research, Genotype-phenotype, Research Support, Short stature, Hearing impairment, Multiple epiphyseal dysplasia, Kniest dysplasia, CARTILAGE, Coxa vara, Journal Article, medicine, Gene mutation, Disease severity, Genetic Association Studies, business.industry, Gestational age, Respiratory distress, Mutational analysis, GENE, Clinical feature, Dysplasia, Aspartic acid, ELSS - Earth, Life and Social Sciences, Healthy for Life, business

وصف الملف: image/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0807fefe9f5a3e2eb49b3df360708ca6
https://doi.org/10.1002/ajmg.a.36922

المؤلفون: Edward S. Tobias, J. Michael Connor

المصدر: Medical Genetics for the MRCOG and Beyond. :115-120

مصطلحات موضوعية: medicine.medical_specialty, Obstetrics and gynaecology, business.industry, Family medicine, medicine, Reproductive medicine, Medical genetics, business, GeneReviews, Genealogy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ad1bc2b2694d6fb79c04802abf94c06e
https://doi.org/10.1017/cbo9781107444966.009

المؤلفون: Edward S. Tobias, Jahad Alghamdi, C. E. Brown, Blair H. Smith, Lynne J. Hocking, Christin Schulz, Anna F. Dominiczak, Claire E. Hastie, Christian Delles, Andrew D. Morris, Michelle Luciano, Sandosh Padmanabhan, David J. Porteous

المصدر: Journal of Human Hypertension. 27:635-655

مصطلحات موضوعية: QTC PROLONGATION, medicine.medical_specialty, business.industry, Internal medicine, Internal Medicine, medicine, Clinical science, business, QT interval

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bf6595f4626d24b6cf55de2eba7c45fb
https://doi.org/10.1038/jhh.2013.72

المؤلفون: Victoria Murday, I. Findlay, D. Oxnard, C. Delles, J. Anusas, C. E. Brown, Edward S. Tobias

المصدر: Scottish Medical Journal. 58:e40-e52

مصطلحات موضوعية: Proband, Pediatrics, medicine.medical_specialty, business.industry, Medicine, General Medicine, business, Sudden death, Normal heart

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8b14f29b53d4e1ef767557ba9c73e1a3
https://doi.org/10.1177/0036933013495794

المؤلفون: Rachael Nixon, Ruth McGowan, Louise A Diver, Andrew Purvis, Vera Cerqueira, Martin McMillan, Syed Faisal Ahmed, Andreas Kyriakou, Sharleene Clelland, William Baird, Jane McNeilly, Angela K Lucas-Herald, Edward S. Tobias

المصدر: Endocrine Abstracts.

مصطلحات موضوعية: Endocrine system, Psychology, Developmental psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5e8c55dd9d45a6b31d1a329b077fe7ea
https://doi.org/10.1530/endoabs.45.oc5.8

المؤلفون: Alexander Fletcher, E. Marie Freel, Edward S. Tobias, Victoria Murday, H. Rosemarie Davidson, Nicola Bradshaw, Phey M. Yeap, Eleni Mavraki, A. Cooke, Colin Perry, Robert S. Lindsay

المصدر: The Journal of Clinical Endocrinology & Metabolism. 96:E2009-E2013

مصطلحات موضوعية: Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Adrenal Gland Neoplasms, Loss of Heterozygosity, Context (language use), Pheochromocytoma, Biology, Biochemistry, Loss of heterozygosity, Endocrinology, Germline mutation, Paraganglioma, Internal medicine, medicine, Humans, Alleles, Germ-Line Mutation, Chromosomes, Human, Pair 11, Biochemistry (medical), medicine.disease, Molecular biology, Pedigree, Succinate Dehydrogenase, Mutation (genetic algorithm), Female, SDHD, Genomic imprinting

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63dde068cc3db5bad698810c020daa5e
https://doi.org/10.1210/jc.2011-1244

المؤلفون: R.M. Mackie, Julie Lang, Edward S. Tobias

المصدر: British Journal of Dermatology. 164:1010-1016

مصطلحات موضوعية: Nonsynonymous substitution, Genetics, Melanoma, Cancer, Single-nucleotide polymorphism, Dermatology, Biology, medicine.disease, SNP genotyping, Genotype, Cutaneous melanoma, Cancer research, medicine, Genotyping

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bbc3cd4bdd74c1fd5a27f12fd8e8af8a
https://doi.org/10.1111/j.1365-2133.2011.10223.x

المؤلفون: Edward S. Tobias

المصدر: The Surgery of Childhood Tumors ISBN: 9783662485880

مصطلحات موضوعية: medicine.medical_specialty, Genetic syndromes, business.industry, Genetic counseling, Cancer, Autosomal dominant trait, medicine.disease, Patient support, Family medicine, Immunology, medicine, Rapid access, The Internet, Analysis tools, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4f02f18d6551af224684cb81f4c53050
https://doi.org/10.1007/978-3-662-48590-3_5

المؤلفون: J. P. Traynor, S. Griffiths, N. F. Őnen, A. Cooke, Edward S. Tobias, William Stewart, Meena Upadhyaya, M. Balsitis, A. A. Shah

المصدر: Familial Cancer. 6:147-152

مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Atrophic gastritis, DNA Mutational Analysis, Nonsense mutation, Loss of Heterozygosity, Biology, Loss of heterozygosity, Pernicious anaemia, Germline mutation, Stomach Neoplasms, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Neurofibromatosis, Multiple endocrine neoplasia, neoplasms, Alleles, Germ-Line Mutation, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Malignant Carcinoid Syndrome, Neurofibroma, Neurofibromin 1, Microsatellite instability, Neoplasms, Second Primary, Exons, medicine.disease, eye diseases, nervous system diseases, Oncology, Codon, Nonsense, Cancer research, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2e4a053a64ca577499c65c64af541a2
https://doi.org/10.1007/s10689-006-9002-2

المؤلفون: Edward S, Tobias, Ken, McElreavey

المصدر: Endocrine development. 27

مصطلحات موضوعية: Mutation, Disorders of Sex Development, High-Throughput Nucleotide Sequencing, Humans, Genetic Predisposition to Disease, Genetic Testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::dcffc78dd7cea4d35304546629f63a50
https://pubmed.ncbi.nlm.nih.gov/25247644