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Journal Article
Genetics in medicine, ISSN 1098-3600, 10/2018, Volume 20, Issue 10, pp. 1175 - 1185
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 2012, Volume 20, Issue 10, pp. 1024 - 1031
blepharo-naso-facial malformation | choanal atresia | camptodactyly | autosomal recessive | migration abnormalities | bilateral periventricular nodular heterotopia | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | 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
Indian journal of ophthalmology, ISSN 0301-4738, 6/2020, Volume 68, Issue 6, pp. 1173 - 1175
Journal Article