HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycleDEARDORFF, Matthew A; BANDO, Masashige; COLE, Kathryn E et al.Nature (London). 2012, Vol 489, Num 7415, pp 313-317, issn 0028-0836, 5 p.Article

An unusual cause of carpal tunnel syndromeKOWALEWSKA-ZIETEK, J; DAWSON, T. P; DAMODARAN, Dinesh et al.Practical neurology (Print). 2011, Vol 11, Num 6, pp 352-354, issn 1474-7758, 3 p.Article

Posterior Fossa MalformationsSHEKDAR, Karuna.Seminars in ultrasound, CT, and MR. 2011, Vol 32, Num 3, pp 228-241, issn 0887-2171, 14 p.Article

Pièges diagnostiques du syndrome du canal carpien = Diagnostic pitfalls in carpal tunnel syndromePETIOT, P; BERNARD, E.Revue neurologique (Paris). 2011, Vol 167, Num 1, pp 64-71, issn 0035-3787, 8 p.Conference Paper

The imploding antrum syndrome: an unusual cause of double visionSTEVENS, Karen; OMER, Salah; TOOCARAM, Brenda et al.Practical neurology (Print). 2010, Vol 10, Num 2, pp 101-104, issn 1474-7758, 4 p.Article

Tourette's syndrome and other tic disordersRICKARDS, Hugh.Practical neurology (Print). 2010, Vol 10, Num 5, pp 252-259, issn 1474-7758, 8 p.Article

Acute hemiparesis in Sturge-: Weber syndromeJUNG, A; RAMAN, A; ROWLAND HILL, C et al.Practical neurology (Print). 2009, Vol 9, Num 3, pp 169-171, issn 1474-7758, 3 p.Article

Congenital and acquired lesions of the septum pellucidumSCOFFINGS, D. J; KURIAN, K. M.Clinical radiology. 2008, Vol 63, Num 2, pp 210-219, issn 0009-9260, 10 p.Article

Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotypeSANTIAGO, Giselda; VENTURINI MARQUES ABRAMIDES, Dagma; MAXIMINO DE-VITTO, Luciana Paula et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 19, pp 2085-2090, issn 1552-4825, 6 p.Article

Le syndrome de dandy-walker : A propos de 2 cas = Dandy-walek syndromeYOUSSEF, A; OUESLATI, A; MAJJADI, M et al.Maghreb médical. 2006, Num 378, pp 84-87, issn 0330-258X, 4 p.Article

Crête neurale céphalique et malformations associées de la face et du cerveau. Discussion = Neural Crest and facial malformations with brain defect. DiscussionCOULY, Gérard; GOFFINET, André; BATTIN, Jacques et al.Bulletin de l'Académie nationale de médecine. 2006, Vol 190, Num 9, pp 1935-1943, issn 0001-4079, 9 p.Article

Possible altered mineral metabolism in human anencenhalic fetusesFRIEL, James K; LONGERICH, Henry; JACKSON, Simon E et al.Nutrition research (New York, NY). 2005, Vol 25, Num 2, pp 103-109, issn 0271-5317, 7 p.Article

Self-mutilation in a child with a tethered spinal cord: Case reportSHANE TUBBS, R; OAKES, W. Jerry.Journal of neurosurgery. Pediatrics. 2005, Vol 102, Num 2, pp 228-230, issn 1933-0707, 3 p.Article

Cerebellum-small brain but large confusion: A review of selected cerebellar malformations and disruptionsBOLTSHAUSER, Eugen.American journal of medical genetics. 2004, Vol 126A, Num 4, pp 376-385, issn 0148-7299, 10 p.Article

Discordant phenotypes in first cousins with UBE3A frameshift mutationMOLFETTA, G. A; MUNOZ, M. V. R; SANTOS, A. C et al.American journal of medical genetics. 2004, Vol 127A, Num 3, pp 258-262, issn 0148-7299, 5 p.Article

Joubert-like syndrome unlinked to known candidate lociJANECKE, Andreas R; MULLER, Thomas; GASSNFR, Ingmar et al.The Journal of pediatrics. 2004, Vol 144, Num 2, pp 264-269, issn 0022-3476, 6 p.Article

Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be differentVIOT, Géraldine; SONIGO, Pascale; MUNNICH, Arnold et al.American journal of medical genetics. 2004, Vol 126A, Num 2, pp 123-128, issn 0148-7299, 6 p.Article

Partial duplication 2p as the sole abnormality in two cases with anencephalyTHANGAVELU, Maya; FROLICH, Gary; ROGERS, David et al.American journal of medical genetics. 2004, Vol 124A, Num 2, pp 170-172, issn 0148-7299, 3 p.Article

UBE3A gene mutations in finnish angelman syndrome patients detected by conformation sensitive gel electrophoresisRAPAKKO, Katrin; KOKKONEN, Hannaleena; LEISTI, Jaakko et al.American journal of medical genetics. 2004, Vol 124A, Num 3, pp 248-252, issn 0148-7299, 5 p.Article

Anterior atlas fracture following suboccipital decompression for Chiari I malformation: Report of two casesO'SHAUGHNESSY, Brian A; SALEHI, Sean A; ALI, Saad et al.Journal of neurosurgery. Spine. 2004, Vol 1, Num 1, pp 137-140, issn 1547-5654, 4 p.Article

Cataplexy in association with Moebius syndromeTYAGI, A; HARRINGTON, H.Journal of neurology. 2003, Vol 250, Num 1, pp 110-111, issn 0340-5354, 2 p.Article

Chronic headaches due to occult hydrocephalusEDWARDS, Richard J; BRITZ, Gavin W; MARSH, Henry et al.Journal of the Royal Society of Medicine. 2003, Vol 96, Num 2, pp 77-78, issn 0141-0768, 2 p.Article

Otocephaly and holoprosencephaly in only one monozygotic twinREINECKE, Petra; FIGGE, Christian; MAJEWSKI, Frank et al.American journal of medical genetics. 2003, Vol 119A, Num 3, pp 395-396, issn 0148-7299, 2 p.Article

Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: A result of mosaicism for a putative BDLS gene mutation?ZANKL, Andreas; RAMPA, Antonio; SCHINZEL, Albert et al.American journal of medical genetics. 2003, Vol 118A, Num 4, pp 358-361, issn 0148-7299, 4 p.Article

Chiari III malformation: Varieties of MRI appearances in two patientsCAKIRER, S.Clinical imaging. 2003, Vol 27, Num 1, pp 1-4, issn 0899-7071, 4 p.Article