Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
Get full text
Journal Article
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1
van der Knaap, Marjo S., Smit, Leo M. E., Barkhof, Frederik, Pijnenburg, Yolande A. L., Zweegman, Sonja, Niessen, Hans W. M., Imhof, Saskia, Heutink, Peter
Published in Annals of neurology (01.03.2006)
Published in Annals of neurology (01.03.2006)
Get full text
Journal Article
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
Get full text
Journal Article
Unusual variants of Alexander's disease
van der Knaap, Marjo S., Salomons, Gajja S., Li, Rong, Franzoni, Emilio, Gutiérrez-Solana, Luiz González, Smit, Leo M. E., Robinson, Richard, Ferrie, Collin D., Cree, Bruce, Reddy, Alyssa, Thomas, Neil, Banwell, Brenda, Barkhof, Frederik, Jakobs, Cornelis, Johnson, Anne, Messing, Albee, Brenner, Michael
Published in Annals of neurology (01.03.2005)
Published in Annals of neurology (01.03.2005)
Get full text
Journal Article
Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance
Barth, Peter G., Majoie, Charles B., Caan, Matthan W.A., Weterman, Marian A.J., Kyllerman, Marten, Smit, Leo M.E., Kaplan, Richard A., Haas, Richard H., Baas, Frank, Cobben, Jan-Maarten, Poll-The, Bwee Tien
Published in Brain (London, England : 1878) (01.09.2007)
Published in Brain (London, England : 1878) (01.09.2007)
Get full text
Journal Article
Differential effects of atomoxetine on executive functioning and lexical decision in attention-deficit/hyperactivity disorder and reading disorder
de Jong, Christien G W, Van De Voorde, Séverine, Roeyers, Herbert, Raymaekers, Ruth, Allen, Albert J, Knijff, Simone, Verhelst, Helene, Temmink, Alfons H, Smit, Leo M E, Rodriques-Pereira, Rob, Vandenberghe, Dirk, van Welsen, Inge, ter Schuren, Liesbeth, Al-Hakim, Mazim, Amin, Azad, Vlasveld, Laurens, Oosterlaan, Jaap, Sergeant, Joseph A
Published in Journal of child and adolescent psychopharmacology (01.12.2009)
Published in Journal of child and adolescent psychopharmacology (01.12.2009)
Get full text
Journal Article
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (Gamma-Hydroxybutyric aciduria)
Gibson, K.Michael, Gupta, Maneesh, Pearl, Phillip L., Tuchman, Mendel, Vezina, L.Gilbert, Snead, O.Carter, Smit, Leo M.E., Jakobs, Cornelis
Published in Biological psychiatry (1969) (01.10.2003)
Published in Biological psychiatry (1969) (01.10.2003)
Get full text
Journal Article
Neuroleptic malignant syndrome in a 4-year-old girl associated with alimemazine
VAN MALDEGEM, Bianca T, SMIT, Leo M. E, TOUW, Daan J, GEMKE, Reinoud J. B. J
Published in European journal of pediatrics (01.05.2002)
Published in European journal of pediatrics (01.05.2002)
Get full text
Conference Proceeding
Journal Article
A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family
Sistermans, E A, de Wijs, I J, de Coo, R F, Smit, L M, Menko, F H, van Oost, B A
Published in Human genetics (01.03.1996)
Published in Human genetics (01.03.1996)
Get more information
Journal Article
Deficiency of the voltage-dependent anion channel : A novel cause of mitochondriopathy
HUIZING, M, RUITTENBEEK, W, THINNES, F. P, DEPINTO, V, WENDEL, U, TRIJBELS, F. J. M, SMIT, L. M. E, TER LAAK, H. J, VAN DEN HEUVEL, L. P
Published in Pediatric research (01.05.1996)
Published in Pediatric research (01.05.1996)
Get full text
Journal Article
Karyotyping urine sediment cells confirms trisomy 12 mosaicism detected at amniocentesis
Leschot, N J, Wilmsen-Linders, E J, van Geijn, H P, Samsom, J F, Smit, L M
Published in Clinical genetics (01.08.1988)
Published in Clinical genetics (01.08.1988)
Get more information
Journal Article
A congenital myasthenic disorder with paucity of secondary synaptic clefts: deficiency and altered distribution of acetylcholine receptors
Smit, L M, Veldman, H, Jennekens, F G, Molenaar, P C, Oen, B S
Published in Annals of the New York Academy of Sciences (1987)
Published in Annals of the New York Academy of Sciences (1987)
Get more information
Journal Article
Pontine tegmental cap dysplasia : a novel brain malformation with a defect in axonal guidance. Commentary
HARBERT, Mary J, GLEESON, Joseph G, BAAS, Frank, COBBEN, Jan-Maarten, POLL-THE, Bwee Tien, BARTH, Peter G, MAJOIE, Charles B, CAAN, Matthan W. A, WETERMAN, Marian A. J, KYLLERMAN, Marten, SMIT, Leo M. E, KAPLAN, Richard A, HAAS, Richard H
Published in Brain (London, England : 1878) (2007)
Get full text
Published in Brain (London, England : 1878) (2007)
Journal Article