المؤلفون: Klubo-Gwiezdzinska, Joanna^Aff3, Kushchayeva, Yevgenia^Aff4, Gara, Sudheer Kumar^Aff5, Kebebew, Electron^Aff6

المساهمون: Mallick, Ujjal K., editor^Aff1, Harmer, Clive, editor^Aff2

المصدر: Practical Management of Thyroid Cancer : A Multidisciplinary Approach. :215-246

المؤلفون: WARNIER, Hélène, BARREA, Christophe, BETHLEN, Sarah, SCHROUFF, Isabelle, HARVENGT, Julie

المصدر: Orphanet Journal of Rare Diseases, 17 (1), 174 (2022-04-23)

مصطلحات موضوعية: Dysautonomia, Multidisciplinary care, Skeletal dysplasia, Stuve-Wiedemann syndrome, Child, Female, Humans, Pregnancy, Abnormalities, Multiple/genetics, Exostoses, Multiple Hereditary/genetics, Osteochondrodysplasias/genetics, Respiratory Insufficiency, Abnormalities, Multiple, Exostoses, Multiple Hereditary, Osteochondrodysplasias, Genetics (clinical), Pharmacology (medical), General Medicine, Human health sciences, Pediatrics, Orthopedics, rehabilitation & sports medicine, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Pédiatrie, Orthopédie, rééducation & médecine sportive, Sciences du vivant, Génétique & processus génétiques

Relation: https://link.springer.com/content/pdf/10.1186/s13023-022-02323-8.pdf; Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.; urn:issn:1750-1172

URL الوصول: https://orbi.uliege.be/handle/2268/291205

المؤلفون: Klubo-Gwiezdzinska, Joanna^Aff3, Kushchayeva, Yevgenia^Aff4, Gara, Sudheer Kumar^Aff5, Kebebew, Electron^{Aff5, Aff6}

المساهمون: Mallick, Ujjal K., editor^Aff1, Harmer, Clive, editor^Aff2

المصدر: Practical Management of Thyroid Cancer : A Multidisciplinary Approach. :241-270

المؤلفون: Mubungu, Gerrye, Makay, Prince, Lumaka Zola, Aimé, Mvuama, Nono, Tshika, Dahlie, Tady, Bruno-Paul, Biselele, Thérèse, Roelants, Mathieu, Tshilobo, Prosper Lukusa, Devriendt, Koenraad

المصدر: American Journal of Medical Genetics. Part A, 185 (2), 453 - 460 (2021-02)

مصطلحات موضوعية: NICU, congenital anomalies, newborns, survival, Abnormalities, Multiple/diagnosis, Abnormalities, Multiple/epidemiology, Abnormalities, Multiple/genetics, Democratic Republic of the Congo/epidemiology, Female, Hospitalization, Humans, Infant, Newborn, Infant, Newborn, Diseases/diagnosis, Infant, Newborn, Diseases/epidemiology, Infant, Newborn, Diseases/genetics, Male, Intensive Care Units, Neonatal, Abnormalities, Multiple, Democratic Republic of the Congo, Infant, Newborn, Diseases, Genetics, Genetics (clinical), Life sciences, Genetics & genetic processes, Human health sciences, Pediatrics, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Pédiatrie

Relation: https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61987; 10.1002/ajmg.a.61987; urn:issn:1552-4825; urn:issn:1552-4833

URL الوصول: https://orbi.uliege.be/handle/2268/296755

المساهمون: Toriello, Helga V., Smith, Shelley D., 1949-

مصطلحات موضوعية: Abnormalities, Multiple -- genetics., Hearing Disorders -- genetics., Deafness -- Genetic aspects.

المؤلفون: Silva, Mariana W. de Barros e, Martins, Alline, Medeiros, Analine L. de, Vasconcelos, Adriano de, Ventura, Camila V.

المصدر: Arquivos Brasileiros de Oftalmologia. February 2022 85(1)

مصطلحات موضوعية: Microphthalmos, Optic nerve, Eye manifestation, Abnormality, Multiple/genetics, Phenotype, Syndrome, Developmental disability

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492022000100085

المساهمون: Murphy, Kieran C., Scambler, Peter J.

مصطلحات موضوعية: Abnormalities, Multiple -- genetics., Chromosome Deletion., Chromosomes, Human, Pair 22., Genetic disorders.

المؤلفون: Flavia M. Facio, Bryn D. Webb, Alan Ma, Christopher Troedson, Irini Manoli, Carmen C. Brewer, Christopher K. Zalewski, Elizabeth C. Engle, Carol Van Ryzin, Audrey Thurm, Paul R. Lee, Timothy James Maarup, Malin Kvarnung, Edmond J. FitzGibbon, Hans Ulrik Møller, Camilo Toro, Scott M. Paul, Glad Ragnhild, Jayne Antony, Omar A. Abdul-Rahman, David G. Hunter, Janice S. Lee, Katrine V. Wirgenes, Dorte Ancher Larsen, Mary C. Whitman, Caroline D. Robson, Wai-Man Chan, Kelly A. King, Tanya J. Lehky, Francis S. Collins, Brenda J. Barry, Sarah MacKinnon, Angela Delaney, Emma Tham, Konstantinia Almpani, Ethylin Wang Jabs

المصدر: Whitman, M C, Barry, B J, Robson, C D, Facio, F M, Van Ryzin, C, Chan, W M, Lehky, T J, Thurm, A, Zalewski, C, King, K A, Brewer, C, Almpani, K, Lee, J S, Delaney, A, FitzGibbon, E J, Lee, P R, Toro, C, Paul, S M, Abdul-Rahman, O A, Webb, B D, Jabs, E W, Moller, H U, Larsen, D A, Antony, J H, Troedson, C, Ma, A, Ragnhild, G, Wirgenes, K V, Tham, E, Kvarnung, M, Maarup, T J, MacKinnon, S, Hunter, D G, Collins, F S, Manoli, I & Engle, E C 2021, ' TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy ', Human Genetics, vol. 140, no. 12, pp. 1709-1731 . https://doi.org/10.1007/s00439-021-02379-9

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Kallmann syndrome, Facial Paralysis, Anterior commissure, Biology, Arginine, Ophthalmoplegia/diagnosis, Young Adult, Ptosis, Tubulin, Hypogonadotropic hypogonadism, Abnormalities, Multiple/genetics, Congenital fibrosis of the extraocular muscles, Genetics, medicine, Humans, Abnormalities, Multiple, Histidine, Child, Facial Paralysis/diagnosis, Peripheral Nervous System Diseases/diagnosis, Genetics (clinical), Ophthalmoplegia, Palsy, Fibrosis/diagnosis, Facial weakness, Infant, Peripheral Nervous System Diseases, Syndrome, medicine.disease, Fibrosis, Peripheral neuropathy, Amino Acid Substitution, Child, Preschool, Mutation, Female, medicine.symptom, Tubulin/genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d00d64dba95ca47cdea707cc3837fb
https://doi.org/10.1007/s00439-021-02379-9

المؤلفون: Linda A.J. Hendricks, Nicoline Hoogerbrugge, Hanka Venselaar, Stefan Aretz, Isabel Spier, Eric Legius, Hilde Brems, Robin de Putter, Kathleen B.M. Claes, D. Gareth Evans, Emma R. Woodward, Maurizio Genuardi, Fulvia Brugnoletti, Yvette van Ierland, Kim Dijke, Emma Tham, Bianca Tesi, Janneke H.M. Schuurs-Hoeijmakers, Maud Branchaud, Hector Salvador, Arne Jahn, Simon Schnaiter, Violetta Christophidou Anastasiadou, Joan Brunet, Carla Oliveira, Laura Roht, Ana Blatnik, Arvids Irmejs, Arjen R. Mensenkamp, Janet R. Vos, Floor Duijkers, Jacques C. Giltay, Liselotte P. van Hest, Tjitske Kleefstra, Edward M. Leter, Maartje Nielsen, Sebastiaan W.R. Nijmeijer, Maran J.W. Olderode-Berends

المساهمون: Human genetics, Cancer Center Amsterdam, CCA - Cancer biology and immunology, Clinical Genetics, MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output

المصدر: European Journal of Medical Genetics, 65(12):104632. Elsevier Masson SAS
European journal of medical genetics, 65(12):104632. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 65(12):104632. Elsevier Masson
EUROPEAN JOURNAL OF MEDICAL GENETICS
European Journal of Medical Genetics, 65, 12
PTEN Study Group 2022, ' Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort ', European Journal of Medical Genetics, vol. 65, no. 12, 104632 . https://doi.org/10.1016/j.ejmg.2022.104632
European Journal of Medical Genetics, 65(12). Elsevier
European Journal of Medical Genetics, 65

مصطلحات موضوعية: Genetic association studies, Medical oncology, Oncologia, Hamartoma, Settore MED/03 - GENETICA MEDICA, Hamartoma Syndrome, Cohort Studies, Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14], All institutes and research themes of the Radboud University Medical Center, Human genetics, SDG 3 - Good Health and Well-being, Medical, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Medicine and Health Sciences, Genetics, Humans, Genetic variation, AUTISM, Hamartoma Syndrome, Multiple/genetics, Genetics (clinical), SPECTRUM, Genètica humana, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, PTEN Phosphohydrolase, Biology and Life Sciences, PTEN Phosphohydrolase/genetics, General Medicine, COWDEN-DISEASE, CANCER, Megalencephaly, RISKS, Fenotip, Phenotype, oncology, Multiple/genetics, Megalencephaly/genetics, Hamartoma Syndrome, Multiple, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]

وصف الملف: application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b579f2ee726b8aee2834cd899346bae
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/285925

المؤلفون: Marialetizia Motta, Maja Solman, Adeline A Bonnard, Alma Kuechler, Francesca Pantaleoni, Manuela Priolo, Balasubramanian Chandramouli, Simona Coppola, Simone Pizzi, Erika Zara, Marco Ferilli, Hülya Kayserili, Roberta Onesimo, Chiara Leoni, Julia Brinkmann, Yoann Vial, Susanne B Kamphausen, Cécile Thomas-Teinturier, Anne Guimier, Viviana Cordeddu, Laura Mazzanti, Giuseppe Zampino, Giovanni Chillemi, Martin Zenker, Hélène Cavé, Jeroen den Hertog, Marco Tartaglia

المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Motta, Marialetizia, Solman, Maja, Bonnard, Adeline, Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne B., Thomas-Teinturier, Cecile, Guimier, Anne, Cordeddu, Viviana, Mazzanti, Laura, Zampino, Giuseppe, Chillemi, Giovanni, Zenker, Martin, Cave, Helene, Hertog, Jeroen, Tartaglia, Marco, Koç University Hospital, School of Medicine

المصدر: Human Molecular Genetics, 31(16), 2766-2778. Oxford University Press
Human Molecular Genetics

مصطلحات موضوعية: ras Proteins/genetics, Medizin, Loose Anagen Hair Syndrome/genetics, functional validation, Biochemistry and molecular biology, Genetics and heredity, RAS signalling, Abnormalities, Multiple/genetics, Loose Anagen Hair Syndrome, Genetics, Humans, Noonan syndrome, Abnormalities, Multiple, Molecular Biology, Genetics (clinical), SHOC2, Intracellular Signaling Peptides and Proteins, General Medicine, MAPK, SHOC2, Noonan syndrome, RASopathy, MAPK, RAS signalling, functional validation, Phenotype, RASopathy, Multiple/genetics, ras Proteins, Abnormalities, Phenotypecongenital abnormality, Signal transduction, Cell membrane, Embryo, Growth factor, Leucine, Mitogen-activated protein kinases, Protein kinase, Up-regulation (physiology) zebrafish genetics, Homogeneity, Fluid flow, Functional behavior, Psychology, Intracellular Signaling Peptides and Proteins/genetics

وصف الملف: pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4274a128c94c54387070cf691ea74309
https://hdl.handle.net/11573/1620615