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2010, Scienze umane, filosofia e teologia, ISBN 9788820985004, Volume 14, 293
Book
Human Mutation, ISSN 1059-7794, 12/2010, Volume 31, Issue 12, pp. 1326 - 1342
Journal Article
NATURE, ISSN 0028-0836, 07/2018, Volume 559, Issue 7714, pp. 405 - 405
Journal Article
Diabetes Research and Clinical Practice, ISSN 0168-8227, 05/2019, Volume 151, pp. 231 - 236
We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade.... 
Pathogenic variants | MODY | Next-generation sequencing | Glucokinase | Monogenic diabetes | Isoenzymes
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 195 - 206
Purpose: To examine the impact of a targeted exome approach for the molecular diagnosis of patients nationwide with a wide range of ataxia-related phenotypes.... 
molecular genetics | diagnosis | clinical | exome sequencing | ataxia | SCA5 | RECESSIVE SPASTIC ATAXIA | FAMILY | CEREBELLAR-ATAXIA | CHARLEVOIX-SAGUENAY | SPG7 MUTATIONS | GENETICS & HEREDITY | MISSENSE MUTATION | ONSET | TOOL | Ataxia
Journal Article
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 7/2008, Volume 38, Issue 6, pp. 1170 - 1177
We studied seven children with CNS folate deficiency (CFD). All cases exhibited psychomotor retardation, regression, cognitive delay, and dyskinesia; six had... 
Folic Acid | Pediatrics | Autism | 5-MTHF | Folate transporters | 5-methyltetrahydrofolate | Psychology | Public Health/Gesundheitswesen | Cerebral folate deficiency | Child & School Psychology | cerebral folate deficiency | OXIDATIVE STRESS | folate transporters | PSYCHOLOGY, DEVELOPMENTAL | MALABSORPTION | FOLINIC ACID | CEREBROSPINAL-FLUID | folic Acid | autism | CHILDREN | Neurological Impairments | Language Skills | Psychomotor Skills | Mental Retardation | Developmental Delays | Behavior Problems | Pervasive Developmental Disorders | Genetics | Children | Seizures | Symptoms (Individual Disorders) | Antisocial Behavior | Autistic Disorder - physiopathology | Humans | Tetrahydrofolates - cerebrospinal fluid | Child, Preschool | Infant | Male | Reference Values | Epilepsy - physiopathology | Psychomotor Disorders - psychology | Dyskinesias - psychology | Female | Psychomotor Disorders - physiopathology | Autistic Disorder - diagnosis | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Developmental Disabilities - physiopathology | Epilepsy - psychology | Regression (Psychology) | Brain - physiopathology | Dyskinesias - physiopathology | Autistic Disorder - psychology | Folic Acid - cerebrospinal fluid | Epilepsy - diagnosis | Folic Acid Deficiency - physiopathology | Folic Acid Deficiency - psychology | Intellectual Disability - physiopathology | Pregnancy | Dyskinesias - diagnosis | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Adolescent | Intellectual Disability - psychology | Folic Acid Deficiency - diagnosis | Developmental Disabilities - psychology
Journal Article