المؤلفون: Sabino Iliceto, Cemil Özcelik, Analia Munoz, Claudine Rieubland, Stylianos E. Antonarakis, Martin Farr, Ulrich Sigwart, François Mach, Paola Melacini, René Lerch, Jean-Louis Blouin, Xavier Jeanrenaud, Siv Fokstuen, Lothar Faber, Andreas Perrot

المصدر: Journal of Medical Genetics, Vol. 48, No 8 (2011) pp. 572-6
Journal of medical genetics

مصطلحات موضوعية: Heterozygote, TNNT2, Cardiomyopathy, 030204 cardiovascular system & hematology, Biology, Polymorphism, Single Nucleotide, DNA Resequencing, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, ddc:576.5, Genetics (clinical), Cardiomyopathy, Hypertrophic/genetics, Oligonucleotide Array Sequence Analysis, 030304 developmental biology, 0303 health sciences, ACTC1, Hypertrophic cardiomyopathy, Genetic Variation, Professional Practice, Sequence Analysis, DNA, Cardiomyopathy, Hypertrophic, Polymorphism, Single Nucleotide/genetics, medicine.disease, 3. Good health, MYL3, Sequence Analysis, DNA/methods, cardiovascular system, MYH7, Allelic heterogeneity

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9d57bc6e46a2ede9d1f18016691ddbdTest
https://doi.org/10.1136/jmg.2010.083345Test

المؤلفون: Claudio Graziano, Enrico Zammarchi, Amelia Morrone, Mannoni A, Berardino Porfirio, De Córdoba, De Bernabé Db, Chiarelli I

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Genetics, Genetic heterogeneity, Haplotype, Biology, medicine.disease, Human genetics, Alkaptonuria, medicine, Allelic heterogeneity, Allele, Letters to the Editor, Gene, Genetics (clinical), Homogentisate 1,2-dioxygenase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a9c3c938a1b7781a6f7f33d8bfefd92Test
https://doi.org/10.1136/jmg.37.4.309Test

المؤلفون: Michael R. Hayden, J. L. De Gennes, Pascale Benlian, J.P. Lagarde, J.P. Girardet, L. Foubert, A. Raisonnier, Ewa Ehrenborg

المصدر: Karolinska Institutet

مصطلحات موضوعية: Male, Canada, Glycine, Biology, medicine.disease_cause, Genetics, medicine, Humans, Point Mutation, Missense mutation, Allele, Alleles, Genetics (clinical), Aspartic Acid, Mutation, Point mutation, Haplotype, LPL DEFICIENCY, Pedigree, Lipoprotein Lipase, French canadian, Female, Allelic heterogeneity, France, Asparagine, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8d064170f11372bee1676ea98457c34Test
https://doi.org/10.1136/jmg.34.8.672Test

المؤلفون: R. Gil, R Mettey, Dominique Bonneau, M. Le Merrer, C Bulteau, Jean-Michel Rozet, Arnold Munnich, Michel Berthier

المصدر: Journal of Medical Genetics. 30:381-384

مصطلحات موضوعية: Adult, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, X Chromosome, Adolescent, Genetic Linkage, Hereditary spastic paraplegia, Locus (genetics), Biology, Gene mapping, Genetic linkage, Genetics, medicine, Spastic, Humans, Spasticity, Child, Genetics (clinical), Recombination, Genetic, Spastic Paraplegia, Hereditary, Chromosome Mapping, Infant, medicine.disease, Pedigree, nervous system diseases, Xq28, Phenotype, Female, Allelic heterogeneity, Lod Score, medicine.symptom, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5270ed739208618560b8acb375061ab7Test
https://doi.org/10.1136/jmg.30.5.381Test

المؤلفون: Michael S. Nahorski, Farida Latif, M.A.M. van Steensel, Eamonn R. Maher, Fred H. Menko, K. McKay, Derek Lim, Lynn Martin, Johan J.P. Gille, Pauline K. Rehal, H. M. Ploeger, Ian Tomlinson

المساهمون: Human genetics, CCA - Oncogenesis, University of Birmingham [Birmingham], VU University Medical Center [Amsterdam], Birmingham Womens Hospital, Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], University of Oxford [Oxford], Dermatologie, RS: GROW - School for Oncology and Reproduction

المصدر: Journal of Medical Genetics, 47, S114-S114. BMJ Publishing Group
Nahorski, M, Lim, D H K, Martin, L, Gille, J J P, Mckay, K, Rehal, P K, Ploeger, H M, van Steensel, M, Tomlinson, I P, Latif, F, Menko, F H & Maher, E R 2010, ' Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer ', Journal of Medical Genetics, vol. 47, pp. S114-S114 . https://doi.org/10.1136/jmg.2009.073304Test
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (6), pp.385. ⟨10.1136/jmg.2009.073304⟩
Journal of Medical Genetics, 47(6), 385-390. BMJ Publishing Group

مصطلحات موضوعية: Lung Diseases, Male, Colorectal cancer, DNA Mutational Analysis, medicine.disease_cause, Germline, 0302 clinical medicine, Genetics (clinical), Genetics, 0303 health sciences, Mutation, Cysts, Gastroenterology, Pneumothorax, Syndrome, Middle Aged, Kidney Neoplasms, 3. Good health, Phenotype, 030220 oncology & carcinogenesis, Allelic heterogeneity, Female, Microsatellite Instability, Colorectal Neoplasms, Adult, Genotype, Cancer: colon, Skin Diseases, Frameshift mutation, 03 medical and health sciences, Proto-Oncogene Proteins, medicine, Humans, Abnormalities, Multiple, Clinical genetics, Folliculin, Carcinoma, Renal Cell, Germ-Line Mutation, 030304 developmental biology, Aged, Family Health, Base Sequence, business.industry, Tumor Suppressor Proteins, Cancer, Microsatellite instability, medicine.disease, Cancer research, business, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdc675cb2db10b3e05a6bf79d7ccdac2Test
http://ora.ox.ac.uk/objects/uuid:22b79c58-5d75-47da-a259-67917cd6cb38Test

المؤلفون: Pierre Maroteaux, M. Le Merrer, Gérald Pierard, Alain Verloes

المصدر: Scopus-Elsevier
Europe PubMed Central

مصطلحات موضوعية: Male, Bone and Bones, Diagnosis, Differential, otorhinolaryngologic diseases, Genetics, medicine, Cartilage–hair hypoplasia, Humans, Child, Genetics (clinical), Immunodeficiency, Bone Diseases, Developmental, integumentary system, business.industry, Infant, Newborn, Infant, Anatomy, Metaphyseal dysplasia, medicine.disease, Osteochondrodysplasia, Hypoplasia, Radiography, Child, Preschool, Hypotrichosis, Female, Allelic heterogeneity, sense organs, Differential diagnosis, business, Hair, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65355b546df438a5a4de3c638a2b9ab5Test
https://doi.org/10.1136/jmg.27.11.693Test

المؤلفون: Monica A. Gutierrez, Adriana M. Montaño, Tatsuo Nishioka, O S Pena, William S. Sly, Akihiko Noguchi, Tadao Orii, Eduard Paschke, Koji O. Orii, Seiji Yamaguchi, Susanne Gerit Kircher, Shunji Tomatsu

المصدر: JOURNAL OF MEDICAL GENETICS. 41(7)

مصطلحات موضوعية: Male, Adolescent, Mucopolysaccharidosis, DNA Mutational Analysis, Dwarfism, Biology, Polymerase Chain Reaction, Exon, Genetics, Lysosomal storage disease, medicine, Missense mutation, Humans, Genetic Testing, Child, Genetics (clinical), Polymorphism, Single-Stranded Conformational, Genome, Human, Sulfatase, Single-strand conformation polymorphism, DNA, DNA Methylation, Mucopolysaccharidoses, medicine.disease, Molecular biology, Chondroitinsulfatases, Phenotype, Mutation, Allelic heterogeneity, CpG Islands, Female, sense organs, Online Mutation Report

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::214c1e28cfe4eb42ca5a4b31e9eb6bd0Test
http://ir.lib.shimane-u.ac.jp/54078Test

المؤلفون: Vanita Berry, Peter J. Francis, Eamonn R. Maher, Alison J. Hardcastle, A. T. Moore, Shomi S. Bhattacharya

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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مصطلحات موضوعية: Adult, Genetic Markers, Male, Candidate gene, X Chromosome, genetic structures, Adolescent, Genotype, Genetic Linkage, Locus (genetics), Biology, Cataract, Genetic linkage, Genetics, medicine, Humans, Child, Genetics (clinical), Nance–Horan syndrome, X chromosome, Aged, Chromosome Mapping, Middle Aged, medicine.disease, eye diseases, Pedigree, Phenotype, Genetic marker, Microsatellite, Allelic heterogeneity, Female, Original Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71ddfb09325ce5322861d9e5bee3396eTest
https://pubmed.ncbi.nlm.nih.gov/11836358Test