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المؤلفون: Toshimitsu Kawate, Amar J. Majmundar, Dervla M. Connaughton, Amelie T. van der Ven, Rufeng Dai, Jameela A. Kari, Caroline M. Kolvenbach, Madeleine J. Tooley, Mohamed A. Shalaby, Ryan E. Hibbs, Erik Henze, Shirlee Shril, Jing Chen, Sherif El Desoky, Nina Mann, Stuart B. Bauer, Lucy Bownass, Hadas Ityel, Richard P. Lifton, Makiko Nakayama, Velibor Tasic, Shrikant Mane, Chen Han W. Wu, Jonathan M. Beckel, Heiko Reutter, Verena Klämbt, Sian Ellard, Weiqun Yu, Franziska Kause, Friedhelm Hildebrandt, Elisa De Franco, Anant Gharpure, Richard S. Lee
المصدر: Am J Hum Genet
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Urinary system, 030232 urology & nephrology, Receptors, Nicotinic, Kidney, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Report, Internal medicine, Genetics, medicine, Humans, Urinary Tract, Genetics (clinical), Upper urinary tract, Acetylcholine receptor, business.industry, Dysautonomia, Prognosis, medicine.disease, Pedigree, Nicotinic acetylcholine receptor, 030104 developmental biology, Endocrinology, Nicotinic agonist, Autonomic Nervous System Diseases, Urogenital Abnormalities, Mutation, Female, medicine.symptom, business, Urinary tract obstruction, Acetylcholine, Follow-Up Studies, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f31481546f97714ed445c35c16af3487
https://doi.org/10.1016/j .ajhg.2019.10.004 -
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المؤلفون: Paul A. Brogan, Madeleine J. Tooley, Ruth Newbury-Ecob, Annette Keylock, Barbara Jensen, Ying Hong, Hywel Williams, Andrew A Mallick, Ebun Omoyinmi, Olumide Ogunbiyi, Vijeya Ganesan, Thomas S. Jacques, Julia Rankin, Despina Eleftheriou, Dawn E. Saunders
المصدر: Neurology: Genetics
مصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, biology, Kinase, Angiogenesis, Kinase insert domain receptor, Receptor tyrosine kinase, Article, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, biology.protein, Cancer research, Neurology (clinical), Signal transduction, Myofibroblast, Tyrosine kinase, 030217 neurology & neurosurgery, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c23e25550c11077b9a4e2ccfbf12bae
https://orca.cardiff.ac.uk/id/eprint/142890/1/e448.full.pdf -
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المؤلفون: Jenny, Lord, Dominic J, McMullan, Ruth Y, Eberhardt, Gabriele, Rinck, Susan J, Hamilton, Elizabeth, Quinlan-Jones, Elena, Prigmore, Rebecca, Keelagher, Sunayna K, Best, Georgina K, Carey, Rhiannon, Mellis, Sarah, Robart, Ian R, Berry, Kate E, Chandler, Deirdre, Cilliers, Lara, Cresswell, Sandra L, Edwards, Carol, Gardiner, Alex, Henderson, Simon T, Holden, Tessa, Homfray, Tracy, Lester, Rebecca A, Lewis, Ruth, Newbury-Ecob, Katrina, Prescott, Oliver W, Quarrell, Simon C, Ramsden, Eileen, Roberts, Dagmar, Tapon, Madeleine J, Tooley, Pradeep C, Vasudevan, Astrid P, Weber, Diana G, Wellesley, Paul, Westwood, Helen, White, Michael, Parker, Denise, Williams, Lucy, Jenkins, Richard H, Scott, Mark D, Kilby, Lyn S, Chitty, Matthew E, Hurles, Eamonn R, Maher, Elizabeth, Wilson
المصدر: Prenatal Diagnosis
Lancet (London, England)مصطلحات موضوعية: Male, Parents, medicine.medical_specialty, DNA Copy Number Variations, Perinatal Death, Abnormal Karyotype, Aneuploidy, Article, Congenital Abnormalities, Fetal Development, 03 medical and health sciences, Fetus, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Correspondence, medicine, Humans, Prospective Studies, Copy-number variation, Prospective cohort study, Increased nuchal translucency, Allele frequency, Exome sequencing, 030304 developmental biology, 0303 health sciences, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics, Patient Selection, Infant, Newborn, Obstetrics and Gynecology, General Medicine, Stillbirth, medicine.disease, 3. Good health, Abortion, Spontaneous, Developmental disorder, Phenotype, Female, Ultrasonography, Nuchal Translucency Measurement, business, Live Birth, Abortion, Eugenic, Cohort study
وصف الملف: application/pdf
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المصدر: Clinical Dysmorphology. 26:91-94
مصطلحات موضوعية: Male, 0301 basic medicine, Protein Serine-Threonine Kinases, Loeys–Dietz syndrome, Pathology and Forensic Medicine, 03 medical and health sciences, Humans, Medicine, Genetics (clinical), Aged, Genetics, Loeys-Dietz Syndrome, business.industry, Receptor, Transforming Growth Factor-beta Type II, General Medicine, Middle Aged, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, Mutation, Pediatrics, Perinatology and Child Health, Female, Anatomy, business, Receptors, Transforming Growth Factor beta
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a36e0471411085e555537f62eaedcd29
https://doi.org/10.1097/mcd.0000000000000173 -
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المؤلفون: Francois P. Bernier, Sarah F. Smithson, Danielle C. Lynch, C Wallis, Debbie Shears, Jenny Morton, Elaine H. Zackai, Melissa Lees, Amaka C. Offiah, Usha Kini, Angela Barnicoat, Nobue Itasaki, Emma Wakeling, Tom Hilliard, Jillian S. Parboosingh, Jill Clayton-Smith, Alistair Calder, Simon Langton-Hewer, Angus John Clarke, Rebecca Hewitson, Elizabeth J. Bhoj, Richard H Scott, Madeleine J. Tooley, Michael Saunders, Tessa Homfray, Moira Blyth, Peter Davis
المصدر: American journal of medical genetics. Part A. (5)
مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Pathology, medicine.medical_specialty, Adolescent, Micrognathism, Ribs, Scoliosis, 030105 genetics & heredity, snRNP Core Proteins, 03 medical and health sciences, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Craniofacial, Child, Genetics (clinical), Rib cage, Respiratory distress, business.industry, Hyoid bone, Horseshoe kidney, Infant, Exons, medicine.disease, Cleft Palate, 030104 developmental biology, Child, Preschool, Mutation, Pierre Robin syndrome, Spliceosomes, Female, business
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المؤلفون: Mike Cosgrove, Madeleine J. Tooley, David Laws, Daniela T. Pilz
المصدر: American journal of medical genetics. Part A. (10)
مصطلحات موضوعية: medicine.medical_specialty, Hearing loss, Sensorineural deafness, Deafness, Short stature, Corneal Diseases, Retinal Diseases, Corneal anesthesia, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Ramos-Arroyo syndrome, Ductus Arteriosus, Patent, Genetics (clinical), Retinal pigment epithelium, business.industry, Dysautonomia, Facies, medicine.disease, Dermatology, medicine.anatomical_structure, Child, Preschool, Female, medicine.symptom, business
Full Text via ClinicalKey