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Results 1 to 25 of 19063

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Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanismsCHEN, Jian-Min; FICHOU, Yann; JAMET, Déborah et al.Transfusion (Philadelphia, PA). 2013, Vol 53, Num 1, pp 206-210, issn 0041-1132, 5 p.Article

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1ISHIHARA, N; YAMADA, K; MIMAKI, M et al.Journal of medical genetics. 2004, Vol 41, Num 5, pp 387-393, issn 0022-2593, 7 p.Article

Nucleotide deletion in RHCE*cE (907delC) is responsible for a D― ― haplotype in HispanicsWESTHOFF, Connie M; VEGE, Sunitha; NICKLE, Pam et al.Transfusion (Philadelphia, PA). 2011, Vol 51, Num 10, pp 2142-2147, issn 0041-1132, 6 p.Article

A new DEL variant caused by exon 8 deletionRICHARD, Martine; PERREAULT, Josée; CONSTANZO-YANEZ, Jessica et al.Transfusion (Philadelphia, PA). 2007, Vol 47, Num 5, pp 852-857, issn 0041-1132, 6 p.Article

Psychopathology in 22q11 deletion syndromeREIERSEN, Angela M; VORSTMAN, Jacob A. S; MORCUS, Monique E. J et al.Journal of the American Academy of Child and Adolescent Psychiatry. 2007, Vol 46, Num 8, pp 942-944, issn 0890-8567, 3 p.Article

Rapid Deletion-Based Subtyping System for the Manila Family of Mvcobacterium tuberculosisFRINK, Stephen; LISHI QIAN; STEVEN YU et al.Journal of clinical microbiology (Print). 2011, Vol 49, Num 5, pp 1951-1955, issn 0095-1137, 5 p.Article

Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndromeFERNANDEZ, Thomas; MORGAN, Thomas; DAVIS, Nicole et al.American journal of human genetics. 2004, Vol 74, Num 6, pp 1286-1293, issn 0002-9297, 8 p.Article

Markerless Gene Deletion System for SphingomonadsKACZMARCZYK, Andreas; VORHOLT, Julia A; FRANCEZ-CHARLOT, Anne et al.Applied and environmental microbiology (Print). 2012, Vol 78, Num 10, pp 3774-3777, issn 0099-2240, 4 p.Article

La délétion homozygote du gène DPY19L2 est responsable de la majorité des cas de globozoospermie = Homozygous deletion of DPY19L2 is responsible for most cases of globozoospermiaRAY, Pierre F; ARNOULT, Christophe.MS. Médecine sciences. 2011, Vol 27, Num 8-9, pp 692-693, issn 0767-0974, 2 p.Article

Dynamic storage fragmentation and file deteriorationLEUNG, C. H. C.IEEE transactions on software engineering. 1986, Vol 12, Num 3, pp 436-441, issn 0098-5589Article

Neurexin 1 (NRXN1 ) Deletions in SchizophreniaKIROV, George; RUJESCU, Dan; INGASON, Andres et al.Schizophrenia bulletin. 2009, Vol 35, Num 5, pp 851-854, issn 0586-7614, 4 p.Article

A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup NFERNANDES, S; PARACCHINI, S; MEYER, L. H et al.American journal of human genetics. 2004, Vol 74, Num 1, pp 180-187, issn 0002-9297, 8 p.Article

Swapping of functional domains using a chimeric monster deletion mutagenesis strategyYANG, Ching-Hui; ZWIEB, Christian.BioTechniques. 2001, Vol 31, Num 4, pp 724-728, issn 0736-6205, 3 p.Article

The pro region of human neutrophil defensin contains a motif that is essential for normal subcellular sortingLIDE LIU; GANZ, T.Blood. 1995, Vol 85, Num 4, pp 1095-1103, issn 0006-4971Article

Nasal abnormalities in the 9p deletion syndromeCERONI COMPADRETTI, Giacomo; TASCA, Ignazio; BARONCINI, Anna et al.Archives of otolaryngology, head & neck surgery. 2007, Vol 133, Num 10, pp 1054-1056, issn 0886-4470, 3 p.Article

In-frame triplet deletions in RHD alter the D antigen phenotypeFLEGEL, Willy A; EICHER, Nicole I; SCHREZENMEIER, Hubert et al.Transfusion (Philadelphia, PA). 2006, Vol 46, Num 12, pp 2156-2161, issn 0041-1132, 6 p.Article

Frequency of #7B-OF508 mutation on cystic fibrosis chromosomes in UKMCINTOSH, I; LORENZO, M.-L; BROCK, D. J. H et al.Lancet (British edition). 1989, Vol 2, Num 8676, pp 1404-1405, issn 0140-6736, 2 p.Article

Functional and structural effects of seven-residue deletions on the coiled-coil cytoplasmic domain of a chemoreceptorMASSAZZA, Diego A; IZZO, Silvina A; GASPEROTTI, A. Florencia et al.Molecular microbiology (Print). 2012, Vol 83, Num 1, pp 224-239, issn 0950-382X, 16 p.Article

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypesSHINAWI, Marwan; SCHAAF, Christian P; IMMKEN, Ladonna L et al.Nature genetics. 2009, Vol 41, Num 12, pp 1269-1271, issn 1061-4036, 3 p.Article

Y chromosome microdeletions : implications for assisted conceptionCRAM, David S; OSBORNE, Elissa; MCLACHLAN, Robert I et al.Medical journal of Australia. 2006, Vol 185, Num 8, pp 433-434, issn 0025-729X, 2 p.Article

ΔF508 gene deletion in cystic fibrosis in southern EuropeESTIVILL, X; CASALS, T; DALLAPICCOLA, B et al.Lancet (British edition). 1989, Vol 2, Num 8676, issn 0140-6736, 1404 [1 p.]Article

Xer Site-Specific Recombination, an Efficient Tool To Introduce Unmarked Deletions into MycobacteriaCASCIOFERRO, Alessandro; BOLDRIN, Francesca; SERAFINI, Agnese et al.Applied and environmental microbiology (Print). 2010, Vol 76, Num 15, pp 5312-5316, issn 0099-2240, 5 p.Article

An Autoinflammatory Disease Due to Homozygous Deletion of the IL1RN LocusREDDY, Sreelatha; SHUANGJIA; GEOFFREY, Rhonda et al.The New England journal of medicine. 2009, Vol 360, Num 23, pp 2438-2444, issn 0028-4793, 7 p.Article

10qter Deletion : A New CasePICCIONE, Maria; ANTONA, Vincenzo; PIRO, Ettore et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 18, pp 2435-2438, issn 1552-4825, 4 p.Article

What causes mitochondrial DNA deletions in human cellsKRISHNAN, Kim J; REEVE, Amy K; SAMUELS, David C et al.Nature genetics. 2008, Vol 40, Num 3, pp 275-279, issn 1061-4036, 5 p.Article

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