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index medicus (28) 28
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humans (24) 24
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genetics (15) 15
mutation (14) 14
mutations (12) 12
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adult (10) 10
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[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (7) 7
[sdv.gen]life sciences [q-bio]/genetics (7) 7
genes (7) 7
human genetics (7) 7
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[ sdv.gen ] life sciences [q-bio]/genetics (4) 4
abnormalities, multiple - genetics (4) 4
article (4) 4
autism (4) 4
chromosomes (4) 4
clinical neurology (4) 4
defects (4) 4
expression (4) 4
gene (4) 4
genetic aspects (4) 4
intellectual disabilities (4) 4
intellectual disability - genetics (4) 4
medicine (4) 4
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pregnancy (4) 4
protein (4) 4
spectrum (4) 4
young adult (4) 4
[ sdv.gen.gh ] life sciences [q-bio]/genetics/human genetics (3) 3
[sdv.mhep]life sciences [q-bio]/human health and pathology (3) 3
[sdv]life sciences [q-bio] (3) 3
abnormalities, multiple - diagnosis (3) 3
association (3) 3
cells, cultured (3) 3
clinical genetics (3) 3
clonal deletion (3) 3
congenital diseases (3) 3
craniofacial abnormalities - genetics (3) 3
de-novo mutations (3) 3
deoxyribonucleic acid--dna (3) 3
dna mutational analysis (3) 3
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gene deletion (3) 3
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genotype (3) 3
haploinsufficiency (3) 3
intellectual disability (3) 3
intellectual disability - diagnosis (3) 3
medical education (3) 3
mental-retardation (3) 3
mutation, missense (3) 3
neurodevelopmental disorders (3) 3
neurosciences (3) 3
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22q13 deletion syndrome (2) 2
[sdv.bbm.gtp]life sciences [q-bio]/biochemistry, molecular biology/genomics [q-bio.gn] (2) 2
[sdv.bdd]life sciences [q-bio]/development biology (2) 2
[sdv.mhep.ped]life sciences [q-bio]/human health and pathology/pediatrics (2) 2
abridged index medicus (2) 2
age (2) 2
amer1 (2) 2
amino acid sequence (2) 2
amino acids (2) 2
anomalies (2) 2
biochemistry, molecular biology (2) 2
care and treatment (2) 2
children (2) 2
choanal atresia (2) 2
classification (2) 2
cleft palate - genetics (2) 2
codon, nonsense (2) 2
cohort studies (2) 2
congenital hypothyroidism - genetics (2) 2
cranes, derricks, etc (2) 2
deafness (2) 2
deficiency (2) 2
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1. Full Text Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
by Redin, Claire and Gérard, Bénédicte and Lauer, Julia and Herenger, Yvan and Muller, Jean and Quartier, Angélique and Masurel-Paulet, Alice and Willems, Marjolaine and Lesca, Gaétan and El-Chehadeh, Salima and Le Gras, Stéphanie and Vicaire, Serge and Philipps, Muriel and Dumas, Michaël and Geoffroy, Véronique and Feger, Claire and Haumesser, Nicolas and Alembik, Yves and Barth, Magalie and Bonneau, Dominique and Colin, Estelle and Dollfus, Hélène and Doray, Bérénice and Delrue, Marie-Ange and Drouin-Garraud, Valérie and Flori, Elisabeth and Fradin, Mélanie and Francannet, Christine and Goldenberg, Alice and Lumbroso, Serge and Mathieu-Dramard, Michèle and Martin-Coignard, Dominique and Lacombe, Didier and Morin, Gilles and Polge, Anne and Sukno, Sylvie and Thauvin-Robinet, Christel and Thevenon, Julien and Doco-Fenzy, Martine and Genevieve, David and Sarda, Pierre and Edery, Patrick and Isidor, Bertrand and Jost, Bernard and Olivier-Faivre, Laurence and Mandel, Jean-Louis and Piton, Amélie
Journal of Medical Genetics, ISSN 0022-2593, 11/2014, Volume 51, Issue 11, pp. 724 - 736
Background Intellectual disability (ID) is characterised by an extreme genetic heterogeneity. Several hundred genes have been associated to monogenic forms of... 
INDIVIDUALS | LINKED MENTAL-RETARDATION | DE-NOVO MUTATIONS | RETT-SYNDROME | NEUROLIGIN GENES | FRAGILE-X | GENETICS & HEREDITY | DUCHENNE MUSCULAR-DYSTROPHY | DEVELOPMENTAL DELAY | AUTISM SPECTRUM DISORDERS | DELETION | Molecular Diagnostic Techniques - methods | Humans | Child, Preschool | Infant | Male | DNA Mutational Analysis - methods | Intellectual Disability - genetics | Young Adult | Intellectual Disability - diagnosis | Adolescent | Adult | Female | High-Throughput Nucleotide Sequencing - methods | Child | Sequence Analysis, DNA - methods | Infant, Newborn | mutation | causative | 1506 | intellectual disability | high-throughput sequencing | autism | Cognitive and Behavioural Genetics
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2. Full Text Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders
by Beaumont, Marie and Akloul, Linda and Carré, Wilfrid and Quélin, Chloé and Journel, Hubert and Pasquier, Laurent and Fradin, Mélanie and Odent, Sylvie and Hamdi-Rozé, Houda and Watrin, Erwan and Dupé, Valérie and Dubourg, Christèle and David, Véronique
Human Genetics, ISSN 0340-6717, 2019, Volume 138, Issue 4, pp. 363 - 374
Neural tube defect disorders are developmental diseases that originate from an incomplete closure of the neural tube during embryogenesis. Despite high... 
SYSTEM | PROTEIN | CLOSURE DEFECTS | MOUSE | GENETICS & HEREDITY | T BRACHYURY | MUTATIONS | PRICKLE1 | ASSOCIATION | DEFICIENCY | FOLATE | Genes | Analysis | Animal models | Embryogenesis | Hedgehog protein | Etiology | Polarity | Heritability | Heredity | Genetic factors | Defects | Life Sciences
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3. Full Text Role of genetics in the etiology of autistic spectrum disorder: Towards a hierarchical diagnostic strategy
by Robert, Cyrille and Pasquier, Laurent and Cohen, David and Fradin, Mélanie and Canitano, Roberto and Damaj, Léna and Odent, Sylvie and Tordjman, Sylvie
International Journal of Molecular Sciences, ISSN 1661-6596, 03/2017, Volume 18, Issue 3, pp. 618 - 618
Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with... 
Autism | Child psychiatric and psychological assessment | Hierarchical diagnostic strategy | Clinical genetics | Genetic disorders | Neuropediatric evaluation | NEONATAL RISK-FACTORS | MENTAL-RETARDATION | RETT-SYNDROME | genetic disorders | BIOCHEMISTRY & MOLECULAR BIOLOGY | neuropediatric evaluation | LEMLI-OPITZ-SYNDROME | ANGELMAN-SYNDROME | BEHAVIORAL-PHENOTYPE | CHEMISTRY, MULTIDISCIPLINARY | autism | PERVASIVE DEVELOPMENTAL DISORDERS | clinical genetics | FRAGILE-X-SYNDROME | hierarchical diagnostic strategy | PRADER-WILLI-SYNDROME | child psychiatric and psychological assessment | 22Q13 DELETION SYNDROME | Autism Spectrum Disorder - genetics | Genetic Predisposition to Disease | Autism Spectrum Disorder - epidemiology | Humans | Genetic Diseases, Inborn - epidemiology | Autism Spectrum Disorder - etiology | Autism Spectrum Disorder - diagnosis | Life Sciences | Human health and pathology
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4. Full Text Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro
by Cohen, Ana S.A and Yap, Damian B and Lewis, M.E. Suzanne and Chijiwa, Chieko and Ramos‐Arroyo, Maria A and Tkachenko, Natália and Milano, Valentina and Fradin, Mélanie and McKinnon, Margaret L and Townsend, Katelin N and Xu, Jieqing and Allen, M.I and Ross, Colin J.D and Dobyns, William B and Weaver, David D and Gibson, William T
Human Mutation, ISSN 1059-7794, 03/2016, Volume 37, Issue 3, pp. 301 - 307
Weaver syndrome (WS) is a rare congenital disorder characterized by generalized overgrowth, macrocephaly, specific facial features, accelerated bone age,... 
Weaver syndrome | childhood cancer | histone methyltransferase | H3K27 | EZH2 | Histone methyltransferase | Childhood cancer | PSEUDODEFICIENCY ALLELE | B-CELL LYMPHOMAS | POLYCOMB | A687V EZH2 | HUMAN HEIGHT | ACUTE LYMPHOBLASTIC-LEUKEMIA | GENETICS & HEREDITY | MUTATIONS | REPRESSIVE COMPLEX 2 | Enhancer of Zeste Homolog 2 Protein - genetics | Enhancer of Zeste Homolog 2 Protein - metabolism | Histone-Lysine N-Methyltransferase - genetics | Polycomb Repressive Complex 2 - genetics | Humans | Infant | Male | Congenital Hypothyroidism - enzymology | Hand Deformities, Congenital - enzymology | Hand Deformities, Congenital - genetics | Histone-Lysine N-Methyltransferase - metabolism | Craniofacial Abnormalities - enzymology | Congenital Hypothyroidism - genetics | Abnormalities, Multiple - enzymology | Female | Polycomb Repressive Complex 2 - metabolism | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Infant, Newborn | Histones | Amino acids | Genetic disorders | Methyltransferases | Methylation | Genotype & phenotype | Congenital diseases | Mutation | Binding sites | Polymorphism | Index Medicus | Life Sciences | Genetics | Human genetics
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5. Full Text Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non‐invasive prenatal diagnosis of achondroplasia
by Orhant, Lucie and Anselem, Olivia and Fradin, Mélanie and Becker, Pierre Hadrien and Beugnet, Caroline and Deburgrave, Nathalie and Tafuri, Gilles and Letourneur, Franck and Goffinet, François and Allach El Khattabi, Laïla and Leturcq, France and Bienvenu, Thierry and Tsatsaris, Vassilis and Nectoux, Juliette
Prenatal Diagnosis, ISSN 0197-3851, 05/2016, Volume 36, Issue 5, pp. 397 - 406
What's already known about this topic? We developed an original strategy for the NIPD of achondroplasia from maternal blood, combining ddPCR with... 
REAL-TIME PCR | ANEUPLOIDY | ACCURATE | DOMAIN | PLASMA DNA | MUTATION | GENETICS & HEREDITY | MONOGENIC DISEASES | DOSAGE | CELL-FREE DNA | HUNTINGTON-DISEASE | OBSTETRICS & GYNECOLOGY | Receptor, Fibroblast Growth Factor, Type 3 - genetics | Achondroplasia - diagnosis | Humans | Prenatal Diagnosis | Mutation, Missense | Maternal Serum Screening Tests | Sequence Analysis, DNA | Case-Control Studies | DNA - blood | DNA - genetics | Pregnancy | Algorithms | Sensitivity and Specificity | Polymerase Chain Reaction | Female | Achondroplasia - blood | Achondroplasia - genetics | Genetic research | Pregnant women | DNA | Life Sciences
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6. Full Text New insights into genotype-phenotype correlation for GLI3 mutations
by Démurger, Florence and Ichkou, Amale and Mougou-Zerelli, Soumaya and Le Merrer, Martine and Goudefroye, Géraldine and Delezoide, Anne-Lise and Quélin, Chloé and Manouvrier, Sylvie and Baujat, Geneviève and Fradin, Mélanie and Pasquier, Laurent and Megarbané, André and Faivre, Laurence and Baumann, Clarisse and Nampoothiri, Sheela and Roume, Joëlle and Isidor, Bertrand and Lacombe, Didier and Delrue, Marie-Ange and Mercier, Sandra and Philip, Nicole and Schaefer, Elise and Holder, Muriel and Krause, Amanda and Laffargue, Fanny and Sinico, Martine and Amram, Daniel and André, Gwenaelle and Liquier, Alain and Rossi, Massimiliano and Amiel, Jeanne and Giuliano, Fabienne and Boute, Odile and Dieux-Coeslier, Anne and Jacquemont, Marie-Line and Afenjar, Alexandra and Van Maldergem, Lionel and Lackmy-Port-Lis, Marylin and Vincent- Delorme, Catherine and Chauvet, Marie-Liesse and Cormier-Daire, Valérie and Devisme, Louise and Geneviève, David and Munnich, Arnold and Viot, Géraldine and Raoul, Odile and Romana, Serge and Gonzales, Marie and Encha-Razavi, Ferechte and Odent, Sylvie and Vekemans, Michel and Attie-Bitach, Tania
European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 1, pp. 92 - 102
The phenotypic spectrum of GLI3 mutations includes autosomal dominant Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). PHS was... 
POINT MUTATIONS | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | ACROCALLOSAL SYNDROME | GENETICS & HEREDITY | PALLISTER-HALL-SYNDROME | CONGENITAL HYPOTHALAMIC HAMARTOBLASTOMA | SPECTRUM | DIAGNOSTIC-CRITERIA | IMPERFORATE ANUS | EXPRESSION | GREIG CEPHALOPOLYSYNDACTYLY SYNDROME | Gene Expression | Genetic Association Studies | Humans | Zinc Finger Protein Gli3 | In Situ Hybridization, Fluorescence | Acrocephalosyndactylia - genetics | Nerve Tissue Proteins - genetics | Haploinsufficiency | Phenotype | DNA Mutational Analysis | Abnormalities, Multiple - diagnosis | Gene Rearrangement | Acrocephalosyndactylia - diagnosis | Family | Mutation | Kruppel-Like Transcription Factors - genetics | Abnormalities, Multiple - genetics | Cohort Studies | Epiglottis | Phenotypes | Greig cephalopolysyndactyly syndrome | Fetuses | Lethality | Hypothalamus | Gene expression | Gene deletion | Gli3 protein | Corpus callosum | Proteins | Clonal deletion | Polydactyly | Genetics | Neoplasia | Genotypes | Life Sciences
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7. Full Text Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
by Verheije, Rosalind and Kupchik, Gabriel S and Isidor, Bertrand and Kroes, Hester Y and Lynch, Sally Ann and Hawkes, Lara and Hempel, Maja and Gelb, Bruce D and Ghoumid, Jamal and D’Amours, Guylaine and Chandler, Kate and Dubourg, Christèle and Loddo, Sara and Tümer, Zeynep and Shaw-Smith, Charles and Nizon, Mathilde and Shevell, Michael and Van Hoof, Evelien and Anyane-Yeboa, Kwame and Cerbone, Gaetana and Clayton-Smith, Jill and Cogné, Benjamin and Corre, Pierre and Corveleyn, Anniek and De Borre, Marie and Hjortshøj, Tina Duelund and Fradin, Mélanie and Gewillig, Marc and Goldmuntz, Elizabeth and Hens, Greet and Lemyre, Emmanuelle and Journel, Hubert and Kini, Usha and Kortüm, Fanny and Le Caignec, Cedric and Novelli, Antonio and Odent, Sylvie and Petit, Florence and Revah-Politi, Anya and Stong, Nicholas and Strom, Tim M and van Binsbergen, Ellen and Devriendt, Koenraad and Breckpot, Jeroen and DDD Study and DDD study
European Journal of Human Genetics, ISSN 1018-4813, 02/2019, Volume 27, Issue 2, pp. 278 - 290
Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and... 
CLEFT-PALATE | ZEBRAFISH | DE-NOVO MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENES | GENETICS & HEREDITY | XIAP | 15Q14 | CARDIAC DEVELOPMENT | DELETION | FOXP1 | HAPLOINSUFFICIENCY | Loss of Function Mutation | Homeodomain Proteins - metabolism | Humans | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Child, Preschool | Male | Cleft Palate - genetics | Transcription Factors - genetics | Homeodomain Proteins - genetics | Syndrome | Intellectual Disability - genetics | Transcription Factors - metabolism | Young Adult | Heart Defects, Congenital - genetics | Phenotype | Cleft Palate - pathology | Adolescent | Female | Heterozygote | Child | Heart | Phenotypes | Clonal deletion | Intellectual disabilities | Chromosome 15 | Gene deletion | Genotypes | Defects | Cleft lip/palate | Haploinsufficiency
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8. Full Text Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
by Legendre, Marine and Abadie, Véronique and Attié‐Bitach, Tania and Philip, Nicole and Busa, Tiffany and Bonneau, Dominique and Colin, Estelle and Dollfus, Hélène and Lacombe, Didier and Toutain, Annick and Blesson, Sophie and Julia, Sophie and Martin‐Coignard, Dominique and Geneviève, David and Leheup, Bruno and Odent, Sylvie and Jouk, Pierre‐Simon and Mercier, Sandra and Faivre, Laurence and Vincent‐Delorme, Catherine and Francannet, Christine and Naudion, Sophie and Mathieu‐Dramard, Michèle and Delrue, Marie‐Ange and Goldenberg, Alice and Héron, Delphine and Parent, Philippe and Touraine, Renaud and Layet, Valérie and Sanlaville, Damien and Quélin, Chloé and Moutton, Sébastien and Fradin, Mélanie and Jacquette, Aurélia and Sigaudy, Sabine and Pinson, Lucile and Sarda, Pierre and Guerrot, Anne‐Marie and Rossi, Massimiliano and Masurel‐Paulet, Alice and El Chehadeh, Salima and Piguel, Xavier and Rodriguez‐Ballesteros, Montserrat and Ragot, Stéphanie and Lyonnet, Stanislas and Bilan, Frédéric and Gilbert‐Dussardier, Brigitte
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2017, Volume 175, Issue 4, pp. 417 - 430
CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development,... 
phenotype | CHARGE syndrome | gene | CHD7 | genotype | CHD7 gene | GENETICS & HEREDITY | UPDATE | PROPOSAL | MUTATIONS | SPECTRUM | DIAGNOSTIC-CRITERIA | ASSOCIATION | Deafness | Medical research | Gene mutations | Analysis | Medicine, Experimental | Genetic aspects | Heart diseases | Hypoplasia | Temporal bone | Audiometry | Anosmia | Pituitary (anterior) | Gonadotropins | Criteria | Patients | Coronary artery disease | Hypogonadism | Holoprosencephaly | Choanal atresia | Defects | Magnetic resonance imaging | Computed tomography | Pituitary | Ear | Olfactory bulb | Diagnostic systems | Anomalies | Life Sciences | Genetics
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9. Full Text Sex chromosome aneuploidies and copy-number variants: A further explanation for neurodevelopmental prognosis variability?
by Le Gall, Jessica and Nizon, Mathilde and Pichon, Olivier and Andrieux, Joris and Audebert-Bellanger, Séverine and Baron, Sabine and Beneteau, Claire and Bilan, Frédéric and Boute, Odile and Busa, Tiffany and Cormier-Daire, Valérie and Ferec, Claude and Fradin, Mélanie and Gilbert-Dussardier, Brigitte and Jaillard, Sylvie and Jønch, Aia and Martin-Coignard, Dominique and Mercier, Sandra and Moutton, Sébastien and Rooryck, Caroline and Schaefer, Elise and Vincent, Marie and Sanlaville, Damien and Le Caignec, Cédric and Jacquemont, Sébastien and David, Albert and Isidor, Bertrand
European Journal of Human Genetics, ISSN 1018-4813, 08/2017, Volume 25, Issue 8, pp. 930 - 934
Sex chromosome aneuploidies (SCA) is a group of conditions in which individuals have an abnormal number of sex chromosomes. SCA, such as Klinefelter's... 
MICRODUPLICATION | USP14 | MENTAL-RETARDATION | XP22.31 | UBIQUITIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | ATAXIA MICE | GENETICS & HEREDITY | Chromosomes, Human, X - genetics | Humans | Male | Developmental Disabilities - genetics | Sex Chromosome Disorders - diagnosis | Sex Chromosome Disorders of Sex Development - genetics | XYY Karyotype - diagnosis | DNA Copy Number Variations | Intellectual Disability - genetics | Sex Chromosome Disorders of Sex Development - diagnosis | Trisomy - diagnosis | Phenotype | Trisomy - genetics | Sex Chromosome Aberrations | XYY Karyotype - genetics | Intellectual Disability - diagnosis | Female | Sex Chromosome Disorders - genetics | Developmental Disabilities - diagnosis | Klinefelter's syndrome | Sex chromosomes | Neurodevelopmental disorders | Intellectual disabilities | Chromosomes
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10. Full Text First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome
by Fradin, Melanie and Collet, Corinne and Ract, Isabelle and Odent, Sylvie and Guggenbuhl, Pascal
Joint Bone Spine, ISSN 1297-319X, 2016, Volume 84, Issue 1, pp. 87 - 90
Abstract Osteopathia striata with cranial sclerosis is a rare X-linked disorder. It is often lethal in male patients, and is considered X-linked dominant since... 
Internal Medicine | Rheumatology | AMER1 | Osteopetrosis | Osteopathia striata | Cranial sclerosis | Klinefelter | TUMOR | MUTATIONS | RHEUMATOLOGY | Genetic Predisposition to Disease | Risk Assessment | Humans | Male | Rare Diseases | Klinefelter Syndrome - diagnostic imaging | Klinefelter Syndrome - genetics | Klinefelter Syndrome - physiopathology | Radiography - methods | Pedigree | Tumor Suppressor Proteins - genetics | Adaptor Proteins, Signal Transducing - genetics | Adult | Osteosclerosis - physiopathology | Mutation | Osteosclerosis - genetics | Osteosclerosis - diagnostic imaging | Klinefelter's syndrome | Life Sciences | Genetics
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11. Full Text Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy
by Nguyen, Karine and Broucqsault, Natacha and Chaix, Charlene and Roche, Stephane and Robin, Jérôme D and Vovan, Catherine and Gerard, Laurene and Mégarbané, André and Urtizberea, Jon Andoni and Bellance, Remi and Barnérias, Christine and David, Albert and Eymard, Bruno and Fradin, Melanie and Manel, Véronique and Sacconi, Sabrina and Tiffreau, Vincent and Zagnoli, Fabien and