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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 | Mental retardation | Siblings
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2013, Volume 45, Issue 11, pp. 1300 - 1310
Journal Article
Neurology, ISSN 0028-3878, 10/2009, Volume 73, Issue 14, pp. 1164 - 1165
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 06/2013, Volume 109, Issue 2, pp. 227 - 229
Congenital generalized lipodystrophy is a rare inherited multisystemic disorder associated with disturbances of adipocyte functions. We report a young boy... 
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2010, Volume 42, Issue 11, pp. 1021 - 1026
Journal Article
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 03/2011, Volume 26, Issue 3, pp. 666 - 672
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1014 - 1027
Journal Article
Handbook of Clinical Neurology, ISSN 0072-9752, 2013, Volume 113, pp. 1527 - 1538
With prevalence figures close to 0.2% at birth and rising to 0.35% during adolescence, hearing loss is the most frequent sensory impairment in childhood. This... 
Severity of Illness Index | Hearing Loss - diagnosis | Cochlear Implantation | Prevalence | Audiometry | Hearing Loss - etiology | Hearing Loss - epidemiology | Humans | Evoked Potentials, Auditory - physiology | Hearing Loss - rehabilitation | Cochlear Implants | Child
Journal Article
Cell, ISSN 0092-8674, 2010, Volume 140, Issue 1, pp. 74 - 87
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2005, Volume 77, Issue 6, pp. 945 - 957
Journal Article
Journal Article