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Nature Communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, pp. 11491 - 11491
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 7, pp. 793 - 796
Journal Article
by Reijnders, Margot R.F and Miller, Kerry A and Alvi, Mohsan and Goos, Jacqueline A.C and Lees, Melissa M and de Burca, Anna and Henderson, Alex and Kraus, Alison and Mikat, Barbara and de Vries, Bert B.A and Isidor, Bertrand and Kerr, Bronwyn and Marcelis, Carlo and Schluth-Bolard, Caroline and Deshpande, Charu and Ruivenkamp, Claudia A.L and Wieczorek, Dagmar and Baralle, Diana and Blair, Edward M and Engels, Hartmut and Lüdecke, Hermann-Josef and Eason, Jacqueline and Santen, Gijs W.E and Clayton-Smith, Jill and Chandler, Kate and Tatton-Brown, Katrina and Payne, Katelyn and Helbig, Katherine and Radtke, Kelly and Nugent, Kimberly M and Cremer, Kirsten and Strom, Tim M and Bird, Lynne M and Sinnema, Margje and Bitner-Glindzicz, Maria and van Dooren, Marieke F and Alders, Marielle and Koopmans, Marije and Brick, Lauren and Kozenko, Mariya and Harline, Megan L and Klaassens, Merel and Steinraths, Michelle and Cooper, Nicola S and Edery, Patrick and Yap, Patrick and Terhal, Paulien A and van der Spek, Peter J and Lakeman, Phillis and Taylor, Rachel L and Littlejohn, Rebecca O and Pfundt, Rolph and Mercimek-Andrews, Saadet and Stegmann, Alexander P.A and Kant, Sarina G and McLean, Scott and Joss, Shelagh and Swagemakers, Sigrid M.A and Douzgou, Sofia and Wall, Steven A and Küry, Sébastien and Calpena, Eduardo and Koelling, Nils and McGowan, Simon J and Twigg, Stephen R.F and Mathijssen, Irene M.J and Nellaker, Christoffer and Brunner, Han G and Wilkie, Andrew O.M and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 06/2018, Volume 102, Issue 6, pp. 1195 - 1203
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2012, Volume 20, Issue 10, pp. 1024 - 1031
We present six patients from five unrelated families with a condition originally described by Van Maldergem et al and provide follow-up studies of the original... 
blepharo-naso-facial malformation | choanal atresia | camptodactyly | autosomal recessive | migration abnormalities | bilateral periventricular nodular heterotopia | PACHYGYRIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | MALFORMATIONS | PERIVENTRICULAR HETEROTOPIA | GENETICS & HEREDITY | FACIAL ABNORMALITIES | JOINT CONTRACTURES | MUTATIONS | Abnormalities, Multiple - pathology | Malformations of Cortical Development, Group II - pathology | Humans | Joint Instability - genetics | Child, Preschool | Joint Instability - pathology | Foot Deformities, Congenital - genetics | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Foot Deformities, Congenital - pathology | Diagnosis, Differential | Joint Instability - diagnosis | Intellectual Disability - pathology | Malformations of Cortical Development, Group II - diagnosis | Foot Deformities, Congenital - diagnosis | Malformations of Cortical Development, Group II - genetics | Genes, Recessive | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Pedigree | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Consanguinity | Hand Deformities, Congenital - pathology | Karyotype | Hypoplasia | Neonates | Phenotypes | Leukocyte migration | Intellectual disabilities | Childrens health | Heredity | Blepharophimosis | Patients | Maxilla | Feeding | Genotype & phenotype | Parents & parenting | Ostomy | Hospitals | Genetics | Mutation | Microtia | Cell migration | Index Medicus | Mental retardation | Siblings
Journal Article
Neurogenetics, ISSN 1364-6745, 07/2016, Volume 17, Issue 3, pp. 159 - 164
Journal Article
Genetics in Medicine, ISSN 1098-3600, 09/2016, Volume 18, Issue 9, p. 949
PURPOSE: This study investigated whole-exome sequencing (WES) yield in a subset of intellectually disabled patients referred to our clinical diagnostic center... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2012, Volume 20, Issue 7, pp. 748 - 753
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 2012, Volume 122, pp. 4375 - 4387
Integrins are transmembrane alphabeta glycoproteins that connect the extracellular matrix to the cytoskeleton. The laminin-binding integrin alpha3beta1 is... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2012, Volume 49, Issue 8, pp. 539 - 543
BACKGROUND: We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia,... 
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, pp. 793 - 796
Cantu syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based... 
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2010, Volume 12, Issue 11, p. 736
Journal Article
Cilia, ISSN 2046-2530, 2015, Volume 4, Issue 1, pp. 8 - 8
BACKGROUND: Ciliopathies give rise to a multitude of organ-specific pathologies; obtaining relevant primary patient material is useful for both diagnostics and... 
Proteins | Pediatrics | Children | Medical centers | Health aspects
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2012, Volume 20, pp. 598 - 606
Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and short stature. Recently, mutations... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2012, Volume 158A, pp. 2733 - 2742
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recently,... 
Journal Article
Nederlands Tijdschrift voor Geneeskunde, ISSN 0028-2162, 08/2003, Volume 147, Issue 32, pp. 1560 - 1563
Journal Article
Tijdschrift voor Kindergeneeskunde, ISSN 0376-7442, 10/2005, Volume 73, Issue 5, pp. 187 - 191
Journal Article
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