المؤلفون: Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, Matthias Begemann, Miriam Elbracht, Luitgard Graul-Neumann, Madeleine Harbison, Irène Netchine, Thomas Eggermann

المصدر: Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-7 (2017)

مصطلحات موضوعية: Maternal uniparental Disomy 7, Formation mechanism, Chromosome 7, Trisomic rescue, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13039-017-0329-1Test; https://doaj.org/toc/1755-8166Test

الوصول الحر: https://doaj.org/article/84c97e1f32fb43759434f5e53211c1a6Test

المؤلفون: Chantot-Bastaraud, Sandra, Stratmann, Svea, Brioude, Frédéric, Begemann, Matthias, Elbracht, Miriam, Graul-Neumann, Luitgard, Harbison, Madeleine, Netchine, Irène, Eggermann, Thomas

المساهمون: Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Universitätsklinikum RWTH Aachen - University Hospital Aachen Aachen, Germany (UKA), Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Charité - UniversitätsMedizin = Charité - University Hospital Berlin, Icahn School of Medicine at Mount Sinai New York (MSSM), Federal Ministry of Education & Research (BMBF) 01GM1513B

المصدر: ISSN: 1755-8166 ; Molecular Cytogenetics ; https://hal.science/hal-04026073Test ; Molecular Cytogenetics, 2017, 10 (1), pp.28. ⟨10.1186/s13039-017-0329-1⟩.

مصطلحات موضوعية: Maternal uniparental Disomy 7, Formation mechanism, Chromosome 7, Trisomic rescue, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28770003; hal-04026073; https://hal.science/hal-04026073Test; https://hal.science/hal-04026073/documentTest; https://hal.science/hal-04026073/file/Chantot-Bastaraud%202017%20Mol%20Cytogenet.pdfTest; PUBMED: 28770003; PUBMEDCENTRAL: PMC5526280; WOS: 000406705200001

الإتاحة: https://doi.org/10.1186/s13039-017-0329-1Test
https://hal.science/hal-04026073Test
https://hal.science/hal-04026073/documentTest
https://hal.science/hal-04026073/file/Chantot-Bastaraud%202017%20Mol%20Cytogenet.pdfTest

المؤلفون: Krystyna H. Chrzanowska, Iosif W. Lurie, Barto J. Otten, Ben C.J. Hamel, H. Ilyina, M. Krajewska-Walasek, Damina Balmer, E. Schoenle, Gholamali Tariverdian, Dieter Kotzot, Albert Schinzel, Alessandra Baumer

المساهمون: University of Zurich, Kotzot, Dieter

المصدر: European Journal of Pediatrics, 159, pp. 247-256
European Journal of Pediatrics, 159, 247-256

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Silver, Clinodactyly, 10039 Institute of Medical Genetics, Developmental Disabilities, Clinical description and delineation of genetic syndromes, Chorionic villus sampling, 610 Medicine & health, Prenatal diagnosis, Russell syndrome, Pediatrics, Humans, Medicine, Abnormalities, Multiple, 2735 Pediatrics, Perinatology and Child Health, Child, Confined placental mosaicism, Klinische beschrijving en moleculaire definiëring van genetische syndromen, Isodisomy, Maternal uniparental disomy 7, Genetics (clinical), Chromosome Aberrations, Genetics, Fetal Growth Retardation, medicine.diagnostic_test, Mosaicism, business.industry, Meiosis II, Silver–Russell syndrome, Heterodisomy, Facies, Syndrome, Perinatology and Child Health, medicine.disease, Uniparental disomy, Overig onderzoek afdeling Paediatrics, Phenotype, Pediatrics, Perinatology and Child Health, Bone maturation, 570 Life sciences, biology, Female, medicine.symptom, business, Chromosomes, Human, Pair 7, Psychomotor Performance, Microsatellite Repeats

وصف الملف: s004310050064.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1c0fe35f74044a07d88b5f62a095912Test
https://doi.org/10.1007/s004310050064Test

المؤلفون: Kotzot, Dieter, Balmer, Damina, Baumer Wolz, Alessandra, Chrzanowska, Krystyna, Hamel, Ben C J, Ilyina, Helena, Krajewska-Walasek, Malgorzata, Lurie, Iosif W, Otten, Barto J, Schoenle, Eugen, Tariverdian, Gholamali, Schinzel, Albert

المصدر: Kotzot, Dieter; Balmer, Damina; Baumer Wolz, Alessandra; Chrzanowska, Krystyna; Hamel, Ben C J; Ilyina, Helena; Krajewska-Walasek, Malgorzata; Lurie, Iosif W; Otten, Barto J; Schoenle, Eugen; Tariverdian, Gholamali; Schinzel, Albert (2000). Maternal uniparental disomy 7 - review and further delineation of the phenotype. European Journal of Pediatrics, 159(4):247-256.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Pediatrics, Perinatology and Child Health, Genetics (clinical), Heterodisomy, Isodisomy, Maternal uniparental disomy 7, Mosaicism, Silver-Russell syndrome

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/234277/1/s004310050064.pdfTest; info:pmid/10789928; urn:issn:0340-6199

الإتاحة: https://doi.org/10.5167/uzh-23427710.1007/s004310050064Test
https://www.zora.uzh.ch/id/eprint/234277Test/
https://www.zora.uzh.ch/id/eprint/234277/1/s004310050064.pdfTest