نتائج البحث - "Genetic screening/counselling"

المصدر: Journal of Medical Genetics BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation EpiHealth: Epidemiology for Health. 55(10):661-668

مصطلحات موضوعية: cancer: dermatological, cancer: head and neck, clinical genetics, genetic epidemiology, genetic screening/counselling, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics, Klinisk medicin, Cancer och onkologi, Clinical Medicine, Cancer and Oncology

الوصول الحر: https://lup.lub.lu.se/record/34f8c307-d33c-45a1-8ab6-422e189d06feTest
http://dx.doi.org/10.1136/jmedgenet-2017-105205Test

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4

دورية أكاديمية

Detection of novel duplication variant in

المؤلفون: Helber, Hannah Leigh, Kim, Taylor Olmsted, Han, HyoJeong

المصدر: BMJ Case Rep ; ISSN:1757-790X ; Volume:17 ; Issue:6

مصطلحات موضوعية: Genetic screening / counselling, Genetics, Haematology (incl blood transfusion)

العلاقة: https://doi.org/10.1136/bcr-2023-258295Test; https://pubmed.ncbi.nlm.nih.gov/38862189Test

الإتاحة: https://doi.org/10.1136/bcr-2023-258295Test
https://pubmed.ncbi.nlm.nih.gov/38862189Test

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5

دورية أكاديمية

Microcornea, cerebellar hypoplasia and hyperlax joints-unusual combo in rare Ehlers-Danlos syndrome-musculocontractural type 1.

المؤلفون: Umapathy, Navin, Thirugnana Sambanda Moorthy, Balakrishnan, Azhagar Nambi Santhi, Vaanmathi, Nair, Lal D V

المصدر: BMJ Case Rep ; ISSN:1757-790X ; Volume:17 ; Issue:6

مصطلحات موضوعية: Genetic screening / counselling, Genetics, Paediatrics (drugs and medicines)

العلاقة: https://doi.org/10.1136/bcr-2023-259350Test; https://pubmed.ncbi.nlm.nih.gov/38834308Test

الإتاحة: https://doi.org/10.1136/bcr-2023-259350Test
https://pubmed.ncbi.nlm.nih.gov/38834308Test

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6

دورية أكاديمية

Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

المؤلفون: Scheidecker, Sophie, Etard, Christelle, Pierce, Nathan W, Geoffroy, Véronique, Schaefer, Elise, Muller, Jean, Chennen, Kirsley, Flori, Elisabeth, Pelletier, Valérie, Poch, Olivier, Marion, Vincent, Stoetzel, Corinne, Strähle, Uwe, Nachury, Maxence V, Dollfus, Hélène

المصدر: Journal of Medical Genetics. 51(2)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Clinical Research, Congenital Structural Anomalies, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Animals, Bardet-Biedl Syndrome, Base Sequence, Carrier Proteins, Codon, Nonsense, Consanguinity, DNA Mutational Analysis, Exome, Fibroblasts, Genetic Association Studies, Genetic Linkage, HEK293 Cells, Humans, Male, Middle Aged, Molecular Sequence Annotation, Pedigree, Phenotype, Polymorphism, Single Nucleotide, Zebrafish, Clinical Genetics, Diagnostics Tests, Genetic Screening, Counselling, Molecular Genetics, Ophthalmology, Genetic Screening/Counselling, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

الوصول الحر: https://escholarship.org/uc/item/7060160bTest

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7

دورية أكاديمية

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

المؤلفون: Baas, M. (Martijn), Burger, E.B. (Elise Bette), Ouweland, A.M.W. (Ans) van den, Hovius, S.E.R. (Steven), Klein, A. (Annelies) de, Nieuwenhoven, C.A. (Christianne) van, Galjaard, R-J.H. (Robert-Jan)

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: clinical genetics, developmental, genetic screening/counselling, molecular genetics

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/130295Test; urn:hdl:1765/130295

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-106948Test
http://repub.eur.nl/pub/130295Test

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8

دورية أكاديمية

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation

المؤلفون: Monteiro, Alvaro, Bouwman, Peter, Kousholt, Arne, Eccles, Diana, Millot, Gael A., Masson, Jean-Yves, Schmidt, Marjanka, Sharan, Shyam, Scully, Ralph, Wiesmüller, Lisa, Couch, Fergus, Vreeswijk, Maaike

المساهمون: H. Lee Moffitt Cancer Center and Research Institute, Netherlands Cancer Institute (NKI), Antoni van Leeuwenhoek Hospital, University of Southampton, Hub Bioinformatique et Biostatistique - Bioinformatics and Biostatistics HUB, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Cancer Research Center - Centre de recherche sur le cancer Québec (CRC), CHU de Québec–Université Laval, Université Laval Québec (ULaval)-Université Laval Québec (ULaval), National Cancer Institute Frederick, Beth Israel Deaconess Medical Center Boston (BIDMC), Harvard Medical School Boston (HMS), Universität Ulm - Ulm University Ulm, Allemagne, Mayo Clinic Rochester, Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University -Universiteit Leiden = Leiden University, The meeting was supported by funds from the Cancer Genomics Center Netherlands through the Netherlands Organization for Scientific Research (NWO), the Royal Netherlands Academy of Arts and Sciences (KNAW), the Danish Counsil for Independent Research (DFF), the Netherlands Cancer Institute and from IDT and BIOKÉ., The authors would like to thank Amanda Spurdle for helpful discussions

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: cancer: breast, clinical genetics, genetic screening/counselling, getting research into practice, molecular genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32152249; hal-02714564; https://hal.science/hal-02714564Test; https://hal.science/hal-02714564/documentTest; https://hal.science/hal-02714564/file/2020%20J%20Med%20Genet.pdfTest; PUBMED: 32152249

الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106368Test
https://hal.science/hal-02714564Test
https://hal.science/hal-02714564/documentTest
https://hal.science/hal-02714564/file/2020%20J%20Med%20Genet.pdfTest

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