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المؤلفون: Romain Lazor, Maria Margherita De Santi, Francesca Santamaria, Emilie Falconnet, Alexandra Saitta, Analia Munoz, C. D. DeLozier-Blanchet, Colette Rossier, Mike Failly, Lucia Bartoloni, Jean-Louis Blouin
المصدر: Respiration. 76:198-204
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Genetics, Pathology, medicine.medical_specialty, Mutation, Kartagener Syndrome, Biology, medicine.disease, medicine.disease_cause, Situs inversus, otorhinolaryngologic diseases, medicine, Congenital disease, Primary ciliary dyskinesia
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2
المؤلفون: Laurence Duprez, Merete Bugge, Carsten A. Brandt, Jens Michael Hertz, C. D. DeLozier-Blanchet, Mads Bak, Michael B. Petersen, Jytte Bieber Nielsen
المصدر: American Journal of Medical Genetics Part A. :310-313
مصطلحات موضوعية: Gynecology, Genetics, Proband, medicine.medical_specialty, medicine.diagnostic_test, Isochromosome, Aneuploidy, Robertsonian translocation, Chromosomal translocation, Prenatal diagnosis, Biology, medicine.disease, medicine.disease_cause, medicine, Amniocentesis, Trisomy, Genetics (clinical)
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3
المؤلفون: Marie-Anne Brundler, Jean-Louis Blouin, C. D. DeLozier-Blanchet, Arnaud Roth, Philippe Morel, Marc-Claude Marti, P. E. Queneau, Pierre Hutter, Stylianos E. Antonarakis, Jean-François Egger, Claudio Soravia
المصدر: Swiss Surgery. 7:0099-0104
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Amsterdam criteria, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Colorectal cancer, Genetic counseling, nutritional and metabolic diseases, Microsatellite instability, medicine.disease, Gastroenterology, digestive system diseases, Germline mutation, Internal medicine, Operative report, Medicine, Surgery, Family history, business, neoplasms, Genetic testing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eb1970cd79347c944253ce29cee00d3c
https://doi.org/10.1024/1023-9332.7.3.99 -
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المؤلفون: L. Van Maldergem, Lucia Bartoloni, M Meeks, C Gehring, b afzelius, A O'Rawe, RM Gardiner, A Walne, Mark Jorissen, Stylianos E. Antonarakis, Jean-Louis Blouin, Genevieve Duriaux Sail, DV Schidlow, H Walt, C. D. DeLozier-Blanchet, Uppala Radhakrishna, Amanda Sainsbury, Dombi, Eddie M. K. Chung, Miguel Armengot, D Probst, P A Guerne
المصدر: European Journal of Human Genetics, Vol. 8, No 2 (2000) pp. 109-118
مصطلحات موضوعية: Male, Genetic Linkage, Locus (genetics), DNA/genetics, Biology, Genetic Heterogeneity, Genetic linkage, Locus heterogeneity, otorhinolaryngologic diseases, Genetics, medicine, Humans, Genetics (clinical), Primary ciliary dyskinesia, ddc:616, Family Health, Polymorphism, Genetic, Genome, Human, Genetic heterogeneity, Linkage (Genetics), Kartagener Syndrome, Ciliary Motility Disorders/ genetics, DNA, medicine.disease, Pedigree, Situs inversus, Phenotype, Ciliary Motility Disorders, Female, Microsatellite Repeats
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المؤلفون: Lucia Bartoloni, SL Spiden, Stylianos E. Antonarakis, Colette Rossier, HM Mitchison, RM Gardiner, M Meeks, A. K. Maiti, Jean-Louis Blouin, C. D. DeLozier-Blanchet, Eddie M. K. Chung, Corinne Gehrig
المصدر: Cytogenetics and Cell Genetics, Vol. 90, No 1-2 (2000) pp. 119-122
Scopus-Elsevierمصطلحات موضوعية: Genotype, DNA Mutational Analysis, Molecular Sequence Data, Microsatellite Repeats/genetics, Biology, Flagellum, medicine.disease_cause, Introns/genetics, Exons/genetics, otorhinolaryngologic diseases, Genetics, medicine, Humans, In patient, Amino Acid Sequence, Polymorphism, Genetic/genetics, Molecular Biology, Transcription factor, Gene, Alleles, Genetics (clinical), Primary ciliary dyskinesia, ddc:616, Mutation, Polymorphism, Genetic, Base Sequence, Kartagener Syndrome, Cilium, Mutation/ genetics, Ciliary Motility Disorders/ genetics, Forkhead Transcription Factors, Exons, medicine.disease, Introns, Cell biology, DNA-Binding Proteins, Situs inversus, Phenotype, Databases as Topic, Trans-Activators, Kartagener Syndrome/genetics, Trans-Activators/ genetics, Ciliary Motility Disorders, Microsatellite Repeats
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المؤلفون: Pereira Joseluiz, Angus John Clarke, Lars Edström, Naidu Sakkubai, Ingo Hansmann, Maria Anvret, Fengqing Xiang, Zhiping Zhang, Budden Sarojini, C. D. DeLozier-Blanchet
المصدر: Karolinska Institutet
مصطلحات موضوعية: Male, X Chromosome, Rett syndrome, Locus (genetics), Biology, Genetic determinism, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Gene mapping, Rett Syndrome, Genetics, medicine, Humans, Skewed X-inactivation, Genetics (clinical), X chromosome, 0303 health sciences, 030305 genetics & heredity, Chromosome Mapping, Telomere, medicine.disease, Pedigree, Xq28, Female, 030217 neurology & neurosurgery, Microsatellite Repeats, Research Article
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المؤلفون: Albert Schinzel, Eric Engel, B. Schmitt, Wendy P. Robinson, Michael A. Morris, C. D. DeLozier-Blanchet, A. Bottani, L. Thun‐Hohenstein
المصدر: American Journal of Medical Genetics. 51:35-40
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Ataxia, Pregnancy, High-Risk, Neurological disorder, Gene mutation, Biology, Polymerase Chain Reaction, Paternal Age, Fathers, Chromosome 15, Angelman syndrome, Happy puppet syndrome, medicine, Humans, Genetics (clinical), Chromosome Aberrations, Genetics, Chromosomes, Human, Pair 15, Infant, Newborn, Karyotype, DNA, Middle Aged, medicine.disease, Uniparental disomy, Phenotype, Female, Angelman Syndrome, medicine.symptom, Maternal Age
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8
المؤلفون: I. Masouye, Vollenweider Rotern, J.H. Saurat, C. D. Delozier-Blanchet
المصدر: Dermatology. 186:138-143
مصطلحات موضوعية: Chromosome 7 (human), Nevus, Pigmented, medicine.medical_specialty, Pathology, Skin Neoplasms, Adolescent, Melanoma, Ring chromosome, Cytogenetics, Chromosome, Dermatology, Biology, Melanocytic nevus, medicine.disease, Neoplasms, Multiple Primary, medicine, Humans, Female, Ring Chromosomes, Pigmented skin, Dysplastic Nevus Syndrome, Chromosomes, Human, Pair 7
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b3a1d350de6456beb260ef26f5e48af
https://doi.org/10.1159/000247325 -
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المؤلفون: Jean-François Bolle, Raymond Rondez, C. D. DeLozier-Blanchet, Michael A. Morris, Marguerite Neerman-Arbez
المصدر: Cancer Genetics and Cytogenetics, Vol. 65, No 1 (1993) pp. 58-63
مصطلحات موضوعية: Male, endocrine system, Cancer Research, medicine.medical_specialty, DNA, Neoplasm/analysis, Dysgerminoma, Biology, Neoplasms, Germ Cell and Embryonal/ genetics, Nucleolus Organizer Region/ pathology, Testicular Neoplasms, Nucleolus Organizer Region, Tumor Cells, Cultured, Genetics, medicine, Humans, ddc:576.5, Teratoma/genetics, Molecular Biology, Mitosis, Chromosome Aberrations, Chromosomes, Human, Pair 12, Dysgerminoma/genetics, Teratoma, Cytogenetics, DNA, Neoplasm, Seminoma, Neoplasms, Germ Cell and Embryonal, Aneuploidy, medicine.disease, Blotting, Southern, Leydig Cell Tumor, Teratocarcinoma, Chromosomes, Human, Pair 1, Karyotyping, Testicular Neoplasms/ genetics, Chromosomal region, Cancer research, Silver Nitrate, Leydig Cell Tumor/genetics, Germ cell tumors, Nucleolus organizer region
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المؤلفون: M A Brundler, P Extermann, J Lespinasse, C. D. DeLozier-Blanchet
المصدر: Journal of Medical Genetics. 38:269-271
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Diaphragmatic breathing, Anatomy, medicine.disease, Hydrocephalus, Central nervous system disease, Fryns syndrome, Genetics, medicine, Respiratory muscle, Diaphragmatic hernia, Hernia, Letters to the Editor, business, Trisomy, Genetics (clinical)