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Rapid diagnosis of primary ciliary dyskinesia: cell culture and soft computing analysisPIFFERI, Massimo; BUSH, Andrew; MONTEMURRO, Francesca et al.The European respiratory journal. 2013, Vol 41, Num 4, pp 960-965, issn 0903-1936, 6 p.Article

Smith―Lemli―Opitz syndrome among ArabsAI-OWAIN, M; LMTIAZ, F; FAQEIH, E et al.Clinical genetics. 2012, Vol 82, Num 2, pp 165-172, issn 0009-9163, 8 p.Article

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver—Russell syndrome and growth retardation : Copy-number variationGRØNSKOV, Karen; POOLE, Rebecca L; DOLMER, Birgitte et al.Journal of medical genetics. 2011, Vol 48, Num 5, pp 308-311, issn 0022-2593, 4 p.Article

Phenotypic Analysis of Individuals With Costello Syndrome dye to HRAS p.G13CGRIPP, Karen W; HOPKINS, Elizabeth; GRAHAM, Gail E et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 706-716, issn 1552-4825, 11 p.Article

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaALLALI, Slimane; LE GOFF, Carine; DROUIN-GARRAUD, Valéie et al.Journal of medical genetics. 2011, Vol 48, Num 6, pp 417-421, issn 0022-2593, 5 p.Article

Neurocognitive, Adaptive, and Behavioral Functioning of Individuals With Costello Syndrome: A ReviewAXELRAD, Marni E; SCHWARTZ, David D; KATZENSTEIN, Jennifer M et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 2, pp 115-122, issn 1552-4868, 8 p.Article

Congenital Portosystemic Shunt in a Child With Wolf―Hirschhorn SyndromeKOGA, Hiroshi; MIYAKO, Kenichi; SAKEMI, Yoshihiro et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 9, pp 2387-2389, issn 1552-4825, 3 p.Article

Mesomelic Dysplasia With Acral Synostoses Verloes―David―Pfeiffer Type: Follow-Up Study Documents Progressive Clinical CourseISIDOR, Bertrand; HAMEL, Antoine; PLASSCHAERT, Frank et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 10, pp 2220-2225, issn 1552-4825, 6 p.Article

Review of Disrupted Sleep Patterns in Smith―Magenis Syndrome and Normal Melatonin Secretion in a Patient With an Atypical Interstitial 17p11.2 DeletionBOUDREAU, Eilis A; JOHNSON, Kyle P; MAGENIS, R. Ellen et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 7, pp 1382-1391, issn 1552-4825, 10 p.Article

Autosomal Dominant Syndrome of Mental Retardation, Hypotelorism, and Cleft Palate Resembling Schilbach-Rott SyndromeSHKALIM, Vered; BARIS, Habit N; SCHIRMACHER, Anja et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 12, pp 2700-2705, issn 1552-4825, 6 p.Article

Tibial Developmental Field Defect Is the Most Common Lower Limb Malformation Pattern in VACTERL AssociationCASTORI, Marco; RINALDI, Rosanna; CAPPELLACCI, Sandra et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 10, pp 1259-1266, issn 1552-4825, 8 p.Article

Mouse Models of Wolf-Hirschhorn SyndromeSIMON, Ruth; BERGEMANN, Andrew D.American journal of medical genetics. Part C, Seminars in medical genetics. 2008, Vol 148, Num 4, pp 275-280, issn 1552-4868, 6 p.Article

Distal 4p microdeletion in a case of wolf-hirschhorn syndrome with congenital diaphragmatic herniaCASACCIA, Germana; MOBILI, Luisa; BRAGUGLIA, Annabella et al.Birth defects research. Clinical and molecular teratology. 2006, Vol 76, Num 3, pp 210-213, issn 1542-0752, 4 p.Article

Short-term longitudinal study of a child with Williams syndromeSTOJANOVIK, Vesna; JAMES, Deborah.International journal of language & communication disorders (Print). 2006, Vol 41, Num 2, pp 213-223, issn 1368-2822, 11 p.Article

The neuropsychological phenotype of velocardiofacial syndrome (VCFS) : Relationship to psychopathologyLAJINESS-O'NEILL, Renée; BEAULIEU, Isabelle; ASAMOAH, Alexander et al.Archives of clinical neuropsychology. 2006, Vol 21, Num 2, pp 175-184, issn 0887-6177, 10 p.Article

Reconnaissance des visages chez les enfants porteurs du syndrome de Williams = How children with Williams syndrome do process faces?MANCINI, J; RONDAN, C; LIVET, M.-O et al.Neuropsychiatrie de l'enfance et de l'adolescence. 2006, Vol 54, Num 3, pp 159-164, issn 0222-9617, 6 p.Article

Cognitive abilities and genotype in a population-based sample of people with Prader-Willi syndromeWHITTINGTON, J; HOLLAND, A; WEBB, T et al.JIDR. Journal of intellectual disability research (Print). 2004, Vol 48, pp 172-187, issn 0964-2633, 16 p., 2Article

Establishment of genetic associations for complex diseases is independent of early study findingsTRIKALINOS, Thomas A; NTZANI, Evangelia E; CONTOPOULOS-IOANNIDIS, Despina G et al.European journal of human genetics. 2004, Vol 12, Num 9, pp 762-769, issn 1018-4813, 8 p.Article

Lidocaine tape (Penles) reduces the pain of botulinum toxin injection for Meige syndromeONGUCHI, Tatsuya; TAKANO, Yoji; DOGRU, Murat et al.American journal of ophthalmology. 2004, Vol 138, Num 4, pp 654-655, issn 0002-9394, 2 p.Article

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndromeNAKASHIMA, Eiji; MABUCHI, Akihiko; MAKITA, Yoshio et al.Human genetics. 2004, Vol 114, Num 4, pp 345-348, issn 0340-6717, 4 p.Article

Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS)KÄLLEN, Karin; ROBERT, Elisabeth; CASTILLA, Eduardo E et al.American journal of medical genetics. 2004, Vol 127A, Num 1, pp 26-34, issn 0148-7299, 9 p.Article

Speech and language in Wolf-Hirschhorn syndrome: a case-studyVAN BORSEL, John; DE GRANDE, Sigrid; VAN BUGGENHOUT, Griet et al.Journal of communication disorders. 2004, Vol 37, Num 1, pp 21-33, issn 0021-9924, 13 p.Article

Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome familiesDOMENECH, E; GOMEZ-ZAERA, M; NUNES, V et al.Clinical genetics. 2004, Vol 65, Num 6, pp 463-469, issn 0009-9163, 7 p.Article

Microdeletion of LIT1 in familial Beckwith-Wiedemann syndromeNIEMITZ, Emily L; DEBAUN, Michael R; FALLON, Jonathan et al.American journal of human genetics. 2004, Vol 75, Num 5, pp 844-849, issn 0002-9297, 6 p.Article

Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndromeWOLOSZYNEK, Jill R; ROTHBAUM, Robert J; RAWLS, Amy S et al.Blood. 2004, Vol 104, Num 12, pp 3588-3590, issn 0006-4971, 3 p.Article

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