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European Journal of Human Genetics, ISSN 1018-4813, 10/2014, Volume 22, Issue 10, pp. 1180 - 1184
Journal Article
Clinical Genetics, ISSN 0009-9163, 03/2014, Volume 85, Issue 3, pp. 278 - 281
Journal Article
Neuropediatrics, ISSN 0174-304X, 10/2009, Volume 40, Issue 5, pp. 207 - 210
Abstract GLUT1 deficiency syndrome (GLUT1DS) is understood as a monogenetic disease caused by heterozygous SLC2A1 gene mutations with autosomaldominant and... 
Rapid Communication | blood-brain barrier | GLUT1 | GLUT1 deficiency | ketogenic diet | paroxysmal exertion-induced dyskinesia | Qatar | homozygosity | SLC2A1 | childhood epilepsy | arabs | autosomal recessive | CLINICAL NEUROLOGY | TERMINUS | GLUCOSE-TRANSPORTER | PEDIATRICS | MUTATIONS
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 | Mental retardation | Siblings
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 10/2013, Volume 60, Issue 10, pp. E128 - E130
Journal Article
The Cleft Palate-Craniofacial Journal, ISSN 1055-6656, 11/2012, Volume 49, Issue 6, pp. 759 - 760
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2011, Volume 155, Issue 9, pp. 2288 - 2292
Journal Article
MEDIZINISCHE GENETIK, ISSN 0936-5931, 09/2011, Volume 23, Issue 3, pp. 364 - 372
Genetic risk calculations are demonstrated for autosomal recessive diseases using Bayesian calculation tables. The Hardy-Weinberg law forms an important basis... 
Autosomal recessive heredity | Hardy-Weinberg law | Risk assessment | GENETICS & HEREDITY | Cystic fibrosis | Spinal muscular atrophies of childhood
Journal Article
Oncogene, ISSN 0950-9232, 03/2000, Volume 19, Issue 13, pp. 1719 - 1723
Turcot's syndrome is a genetic disease characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas. We... 
Turcot syndrome | Microsatellite instability (MIN) | Brain and olorectal tumors | PMS2 gene | microsatellite instability (MIN) | INSTABILITY | NONPOLYPOSIS COLORECTAL-CANCER | BIOCHEMISTRY & MOLECULAR BIOLOGY | MISMATCH REPAIR | HOMOLOG | TUMORS | AUTOSOMAL-DOMINANT INHERITANCE | CELL BIOLOGY | COLON-CANCER | ONCOLOGY | GENETICS & HEREDITY | FAMILIAL ADENOMATOUS POLYPOSIS | TISSUES | brain and colorectal tumors | MUTATOR PHENOTYPE | Sequence Deletion | Colonic Neoplasms - genetics | Oligodendroglioma - genetics | Adenoma - genetics | Colorectal Neoplasms - genetics | Humans | Middle Aged | Terminator Regions, Genetic - genetics | DNA Repair - genetics | Parietal Lobe | Sigmoid Neoplasms - genetics | Polymorphism, Single-Stranded Conformational | Colonic Polyps - genetics | Rectal Neoplasms - genetics | DNA Mutational Analysis | Aged, 80 and over | Adult | Female | Mismatch Repair Endonuclease PMS2 | Neoplastic Syndromes, Hereditary - genetics | Codon - genetics | Microsatellite Repeats | DNA-Binding Proteins | Proteins - physiology | Neuroblastoma - genetics | Brain Neoplasms - genetics | DNA Repair Enzymes | Genes, Recessive | Syndrome | Proteins - genetics | Adenosine Triphosphatases | Pedigree | Adolescent | Heterozygote | Aged | Complications and side effects | Chromosome abnormalities | Gene mutations | Brain cancer | Colorectal cancer | Genetic aspects | Research | Health aspects | Risk factors
Journal Article
Neurological Research, ISSN 0161-6412, 12/2019, Volume 41, Issue 12, pp. 1069 - 1074
Objectives: Myotonia congenita (MC) is a rare genetic muscular disorder caused by CLCN1 mutations, which codes for skeletal muscle chloride channel CLC1. MC is... 
CLC1 | Novel mutations | Myotonia congenita | CLCN1 | Autosomal recessive inheritance
Journal Article
Genetics in Medicine, ISSN 1098-3600, 10/2018, Volume 20, Issue 10, pp. 1175 - 1185
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2007, Volume 143A, Issue 21, pp. 2576 - 2580
Journal Article
Journal of Clinical and Diagnostic Research, ISSN 2249-782X, 08/2018, Volume 12, Issue 8, pp. SD03 - SD05
Journal Article
Journal Article