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Results 1 to 25 of 4656

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Stiff person syndromeHADAVI, Shahrzad; NOYCE, Alastair J; DAVID LESLIE, R et al.Practical neurology (Print). 2011, Vol 11, Num 5, pp 272-282, issn 1474-7758, 11 p.Article

Malformations of Dorsal InductionKANEKAR, Sangam; KANEDA, Heather; SHIVELY, Alexis et al.Seminars in ultrasound, CT, and MR. 2011, Vol 32, Num 3, pp 189-199, issn 0887-2171, 11 p.Article

Malformations of Ventral InductionKANEKAR, Sangam; SHIVELY, Alexis; KANEDA, Heather et al.Seminars in ultrasound, CT, and MR. 2011, Vol 32, Num 3, pp 200-210, issn 0887-2171, 11 p.Article

POEMS syndrome avec plasmocytome ostéolytique = POEMS syndrome with plasmocytoma lytic bone lesionRAFAI, M. A; FADEL, H; BOULAAJAJ, F. Z et al.Revue neurologique (Paris). 2008, Vol 164, Num 8-9, pp 722-727, issn 0035-3787, 6 p.Article

A case of methotrexate embryopathy with holoprosencephaly, expanding the phenotypeMOHAMMED ZAIN SEIDAHMED; SHAHEED, Meeralebbae M; ABDULBASIT, Omar B et al.Birth defects research. Clinical and molecular teratology. 2006, Vol 76, Num 2, pp 138-142, issn 1542-0752, 5 p.Article

Cornelia de lange syndrome : Parental preferences regarding the provision of medical informationHINKSON, Deborah A. R; ATENAFU, Eshetu; KENNEDY, Shelley J et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 20, pp 2170-2179, issn 1552-4825, 10 p.Article

Development of syringohydromyelia associated with Dandy-Walker malformation : treatment with cystoperitoneal shunt placementRICHTER, Erich O; PINCUS, David W.Journal of neurosurgery. Pediatrics. 2006, Vol 104, Num 3, pp 206-209, issn 1933-0707, 4 p.Article

Holoprosencephaly : Clinical evaluation on audiological and brainstem electrophysiological profilesANTONELI, Melissa Z; ZANCHETTA, Sthella; ZORZETTO, Neivo L et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 19, pp 2142-2145, issn 1552-4825, 4 p.Article

Mutational and genotype-phenotype correlation analyses in 28 polish patients with cornelia de lange syndromeJIONG YAN; SAIFI, Gulam Mustafa; WIERZBA, Tomasz H et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 14, pp 1531-1541, issn 1552-4825, 11 p.Article

Beckwith-Wiedemann syndrome in a child with chiari I malformation case reportTUBBS, A. Shane; OAKES, W. Jerry.Journal of neurosurgery. Pediatrics. 2005, Vol 103, Num 2, pp 172-174, issn 1933-0707, 3 p.Article

A case of Sotos syndrome (cerebral gigantism) and psychosisCOMPTON, Michael T; CELENTANA, Marc; PRICE, Brian et al.Psychopathology. 2004, Vol 37, Num 4, pp 190-193, issn 0254-4962, 4 p.Article

Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversalKEEGAN, Catherine E; VILAIN, Eric; MOHAMMED, Mansoor et al.American journal of medical genetics. 2004, Vol 125A, Num 3, pp 293-298, issn 0148-7299, 6 p.Article

Prévention des AFTN par les folates : conseils nutritionnels, supplémentation médicamenteuse... ou enrichissement des farines?CZERNICHOW, Sébastien; BLACHER, Jacques; DUCIMETIERE, Pierre et al.Médecine et nutrition. 2004, Vol 40, Num 3, pp 123-127, issn 0398-7604, 5 p.Article

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of Keratitis-Ichthyosis-Deafness (KID) syndromeALVAREZ, Araceli; DEL CASTILLO, Ignacio; PERA, Alejandra et al.American journal of medical genetics. 2003, Vol 117A, Num 1, pp 89-91, issn 0148-7299, 3 p.Article

Athabascan brainstem dysgenesis syndromeHOLVE, Steve; FRIEDMAN, Barbara; HOYME, H. Eugene et al.American journal of medical genetics. 2003, Vol 120A, Num 2, pp 169-173, issn 0148-7299, 5 p.Article

Delivery of transforming growth factor-β2-perturbing antibody in a collagen vehicle inhibits cranial suture fusion in calvarial organ cultureMOURSI, Amr M; WINNARD, Phillip L; FRYER, Doug et al.The Cleft palate-craniofacial journal. 2003, Vol 40, Num 3, pp 225-232, issn 1055-6656, 8 p.Article

Fetal surgery for myelomeningocele: Panacea or peril? : Fetal surgeryHIROSE, Shinjiro; MEULI-SIMMEN, Claudia; MEULI, Martin et al.World journal of surgery. 2003, Vol 27, Num 1, pp 87-94, issn 0364-2313, 8 p.Article

Focal cortical dysplasiaMONTENEGRO, Maria Augusta.Archives of neurology (Chicago). 2003, Vol 60, Num 4, pp 634-636, issn 0003-9942, 3 p.Article

In vitro high-field magnetic resonance imaging-documented anatomy of a fetal myelomeningocele at 20 weeks' gestation. A contribution to the rationale of intrauterine surgical repair of spina bifidaBEULS, Emile A. M; VANORMELINGEN, Linda; VAN AALST, Jasper et al.Journal of neurosurgery. 2003, Vol 98, Num 2, pp 210-214, issn 0022-3085, 5 p.Article

Late gestational intrauterine myelomeningocele repair does not improve lower extremity functionTUBBS, R. Shane; CHAMBERS, M. Renee; SMYTH, Matthew D et al.Pediatric neurosurgery. 2003, Vol 38, Num 3, pp 128-132, issn 1016-2291, 5 p.Article

Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRIBROCKMANN, K; FINSTERBUSCH, J; TERWEY, B et al.Neuroradiology (Berlin. Print). 2003, Vol 45, Num 3, pp 137-142, issn 0028-3940, 6 p.Article

Middle interhemispheric variant of holoprosencephaly associated with diffuse polymicrogyriaTAKANASHI, Jun-Ichi; BARKOVICH, A. James; CLEGG, Nancy J et al.American journal of neuroradiology. 2003, Vol 24, Num 3, pp 394-397, issn 0195-6108, 4 p.Article

Periventricular heterotopia associated with chromosome 5p anomaliesSHEEN, V. L; WHELESS, J. W; SHERR, E. H et al.Neurology. 2003, Vol 60, Num 6, pp 1033-1036, issn 0028-3878, 4 p.Article

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3CARDOSO, Carlos; LEVENTER, Richard J; MUTCHINICK, Osvaldo M et al.American journal of human genetics. 2003, Vol 72, Num 4, pp 918-930, issn 0002-9297, 13 p.Article

Role of surgery for maintaining urological function and prevention of retethering in the treatment of lipomeningomyelocele: experience recorded in 75 lipomeningomyelocele patientsKANG, Joon-Ki; LEE, Kwan-Sung; JEUN, Sin-Soo et al.Child's nervous system (Print). 2003, Vol 19, Num 1, pp 23-29, issn 0256-7040, 7 p.Article

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