المؤلفون: Chandran Ka, Julie Guellec, Xavier Pepermans, Caroline Kannengiesser, Cécile Ged, Wim Wuyts, David Cassiman, Victor de Ledinghen, Bruno Varet, Caroline de Kerguenec, Claire Oudin, Isabelle Gourlaouen, Thibaud Lefebvre, Claude Férec, Isabelle Callebaut, Gérald Le Gac

المصدر: Haematologica, Vol 103, Iss 11 (2018)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/8657; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/1f0d0cbc356347acb8324b9633747899

المؤلفون: Paola Melotti, Andrea Mafficini, Patrick Lebecque, Myriam Ortombina, Teresinha Leal, Emily Pintani, Xavier Pepermans, Claudio Sorio, Baroukh Maurice Assael

المصدر: PLoS ONE, Vol 9, Iss 12, p e114274 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4264759?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/624e86a583e04305b84c5231ae200cae

المؤلفون: Xavier Pepermans, Carole Barin, Hélène Poirel, Nicole Dastugue, Ivan Théate, Martine Raphael, Violaine Havelange, Geneviève Ameye, Lucienne Michaux, Evelyne Callet-Bauchu, Miikka Vikkula, Francine Mugneret, Dominique Penther, Eric Lippert

المصدر: British Journal of Haematology. 173:137-144

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Loss of Heterozygosity, Loss of heterozygosity, 03 medical and health sciences, Exon, 0302 clinical medicine, CDKN2A, hemic and lymphatic diseases, Internal medicine, medicine, Chromosomes, Human, Humans, Copy-number variation, Child, B-cell lymphoma, Chromosome Aberrations, Hematology, business.industry, Age Factors, Infant, medicine.disease, Burkitt Lymphoma, Neoplasm Proteins, Lymphoma, 030104 developmental biology, Child, Preschool, 030220 oncology & carcinogenesis, Immunology, Female, business, SNP array

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e90b14f1e3387a5409a5116b866d19b
https://doi.org/10.1111/bjh.13925

المؤلفون: Teresinha Leal, Daniel Baran, Xavier Pepermans, Sergio Chialina, Vincent Bours, Hilda Lande, Walter Bordino, Soledad Mellado, Marta Wagener, Liliana Gallardo

المصدر: Clinical Biochemistry. 49:154-160

مصطلحات موضوعية: 0301 basic medicine, Heterozygote, Cystic Fibrosis, First line, Clinical Biochemistry, Population, Argentina, Bioinformatics, Cystic fibrosis, 03 medical and health sciences, symbols.namesake, European origin, medicine, Humans, Allele, education, Sanger sequencing, Genetics, education.field_of_study, business.industry, Homozygote, General Medicine, medicine.disease, Phenotype, 030104 developmental biology, Mutation, symbols, Identification (biology), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::863315e85431ddaa06f8544d0fbd2665
https://doi.org/10.1016/j.clinbiochem.2015.10.007

المؤلفون: Yuki Okado, Tsutomu Nishida, Takahiro Inoue, Byung-Hoon Min, Yasuhiro Takaki, Jahangir Khan, Xavier Pepermans, Giuseppe Magazzù, Hiroshi Watanabe, Jong Chul Rhee, Akira Mukai, Takashi Nagahama, Andrea Tortora, Nunzio Belluardo, Stefano Costa, Yu Matsushima, Anne Jouret-Mourin, Pietro Naso, Julia Martin, Juhani Sand, Hubert Piessevaux, Noritaka Takatsu, Yoichiro Ono, Mihoko Yamade, Massimo Spina, Aldina Bertone, Teresinha Leal, Yuho Sato, Kozue Tsurumi, Takanori Yamada, Concetta Sferlazzas, Satoshi Osawa, Jürgen Stein, Jae J. Kim, Kathrin Krieger, Luigi Familiari, Takahisa Furuta, Birgit Weynand, Akinori Iwashita, Satoshi Ishikawa, Pierre Henri Deprez, Masafumi Nishino, Druck Reinhardt Druck Basel, Shoko Fujiwara, Jun Haeng Lee, Yutaka Yano, Kyoung-Mee Kim, Fumihito Hirai, Giovanni Currò, Toshiyuki Matsui, Tabea Geisel, Syoichiro Kawai, André Geubel, Guido Passanisi, Ken Sugimoto, Poong-Lyul Rhee, Sebastiana Malandrino, Eun Ran Kim, Jean-Baptiste Habyalimana, Takahiro Beppu, Shu Sahara, Coralie Hamoir, Takuya Yamada, Gabrio Bassotti, Satoshi Hiyama, Takashi Hisabe, Isto Nordback, Eri Shiraishi, Hideki Iijima, Giovanni Tuccari, Agata Sciacca, Constanze Christin Maresch, Masahiko Tsujii, Jean-François Gigot, Mitsushige Sugimoto, Tetsuo Takehara, Lidia Puzzo, Yang Won Min, Kazuo Umemura, Vincenzo Villanacci, Naoyuki Yoshizawa, Takahiro Uotani, Federica Furfaro, Hiroaki Miyajima, Cinzia D'Agate, Giuseppe Vieni, Kenshi Yao, Shinichiro Shinzaki, Salvatore Pellegrino

المصدر: Digestion. 87:I-IV

مصطلحات موضوعية: Gastroenterology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fb9bccb391da3927054aafc86f642995
https://doi.org/10.1159/000353522

المؤلفون: Emily Pintani, Patrick Lebecque, Xavier Pepermans, Claudio Sorio, Baroukh M. Assael, M. Ortombina, Paola Melotti, Andrea Mafficini, Teresinha Leal

المساهمون: UCL - (SLuc) Service de pédiatrie générale, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - SSS/IREC/PNEU - Pôle de Pneumologie, ORL et Dermatologie, UCL - SSS/IREC/LTAP - Louvain Centre for Toxicology and Applied Pharmacology, UCL - (SLuc) Centre de l'allergie, UCL - (SLuc) Service de biochimie médicale, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: PLoS ONE, Vol 9, Iss 12, p e114274 (2014)
PLoS ONE
PLoS One, Vol. 9, no. 12, p. e114274 [1-12] (2014)

مصطلحات موضوعية: Male, Cystic Fibrosis, Pulmonology, Molecular biology, Test Statistics, Cystic Fibrosis Transmembrane Conductance Regulator, lcsh:Medicine, Gene mutation, Cystic fibrosis, Sequencing techniques, Mathematical and Statistical Techniques, Polymorphism (computer science), Forced Expiratory Volume, Genotype, Medicine and Health Sciences, Medicine, DNA sequencing, Age of Onset, Promoter Regions, Genetic, lcsh:Science, Lung, Multidisciplinary, Homozygote, Pseudomonas aeruginosa, Physical Sciences, Female, Genetic Dominance, Statistics (Mathematics), Research Article, Adult, Research and Analysis Methods, Young Adult, Autosomal Recessive Diseases, Genetics, Humans, Statistical Methods, Allele, Macrophage Migration-Inhibitory Factors, Macrophage migration Inhibitory Factor (MIF), Alleles, Repetitive Sequences, Nucleic Acid, Clinical Genetics, Polymorphism, Genetic, Biology and life sciences, business.industry, lcsh:R, Promoter, medicine.disease, Fibrosis, Genotype frequency, Molecular biology techniques, Mutation, Immunology, Macrophage migration inhibitory factor, lcsh:Q, business, Mathematics, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c598ea1132151230c53acf6e4ec7de2f
http://europepmc.org/articles/PMC4264759?pdf=render

المؤلفون: Maria Santa Rocca, Mercedes Bloch, Beverly S. Emanuel, Nicole Revencu, Anissa Leonard, Xavier Pepermans, Andreas A. Diplas, Yves Sznajer

المصدر: American journal of medical genetics. Part A. (7)

مصطلحات موضوعية: Male, Microcephaly, Genotype, Chromosome Disorders, Biology, Bioinformatics, Gene duplication, Genetics, OTOF, medicine, Humans, Global developmental delay, Child, Genetics (clinical), Genetic Association Studies, Comparative Genomic Hybridization, Facies, Membrane Proteins, medicine.disease, Phenotype, Chromosomes, Human, Pair 2, Chromosome Deletion, Haploinsufficiency, SNP array

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a26d32fd1fb309faa77954d0c30a814e
https://pubmed.ncbi.nlm.nih.gov/24700699

المؤلفون: Xavier Pepermans, Hélène Antoine-Poirel, Sabrina Boumendjel

المصدر: Pancreatology. 13:S63

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Hepatology, business.industry, Endocrinology, Diabetes and Metabolism, Internal medicine, Familial Pancreatic Cancer, Gastroenterology, medicine, Genetic predisposition, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::63a1fdde7302644b02eae2a16a3287d8
https://doi.org/10.1016/j.pan.2013.04.221

المؤلفون: Teresinha Leal, M. Philippe, A. Bosmans, Xavier Pepermans

المصدر: Journal of Cystic Fibrosis. 10:S7

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pathology, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, Immunology, Medicine, Pediatrics, Perinatology, and Child Health, business, medicine.disease, Cystic fibrosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1da187a083a874dea538b2ae9b554407
https://doi.org/10.1016/s1569-1993(11)60047-7

المؤلفون: Xavier Pepermans, P.H. Deprez, C. Hamoir, A. Bosmans, M. Philippe, Teresinha Leal

المصدر: Journal of Cystic Fibrosis. 9:S3

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, General surgery, Pediatrics, Perinatology and Child Health, Medicine, Pancreatitis, Pediatrics, Perinatology, and Child Health, business, medicine.disease, Cystic fibrosis, Surgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16b04d5637bf230db383d1a29758c0c0
https://doi.org/10.1016/s1569-1993(10)60013-6