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1991, Johns Hopkins series in contemporary medicine and public health., ISBN 9780801841699, xiv, 378
Book
Journal of Genetic Counseling, ISSN 1059-7700, 12/2012, Volume 21, Issue 6, pp. 752 - 760
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 8/2005, Volume 14, Issue 4, pp. 249 - 270
Journal Article
Obstetrics & Gynecology, ISSN 0029-7844, 04/2003, Volume 101, Issue Supplement, pp. 19 - 20S
Journal Article
Obstetrics & Gynecology, ISSN 0029-7844, 2003, Volume 101, Issue 4, pp. S19 - S20
Journal Article
Journal of the American Academy of Child & Adolescent Psychiatry, ISSN 0890-8567, 11/1992, Volume 31, Issue 6, pp. 1141 - 1148
Journal Article
Pediatrics, ISSN 0031-4005, 12/2012, Volume 130, Issue 6, pp. 1126 - 1135
Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability.... 
Newborn screening | Fragile X-associated disorders | FMR1 mutations | Fragile X syndrome | Genetic testing recommendations | Genetic screening | COST-EFFECTIVENESS ANALYSIS | MENTAL-RETARDATION | fragile X syndrome | fragile X-associated disorders | EXPANDED ALLELES | KNOCKOUT MICE | genetic screening | POLYMERASE-CHAIN-REACTION | TREMOR/ATAXIA SYNDROME | genetic testing recommendations | FULL MUTATION | CGG REPEAT | PEDIATRICS | newborn screening | FMR1 GENE | PRENATAL-DIAGNOSIS | Humans | Child, Preschool | Patient Care Team | Infant | Male | Neonatal Screening | Trinucleotide Repeats - genetics | DNA Mutational Analysis | Polymerase Chain Reaction | Adult | Female | Attention Deficit Disorder with Hyperactivity - diagnosis | Ataxia - genetics | Autistic Disorder - diagnosis | Child | Infant, Newborn | Autistic Disorder - genetics | Fragile X Syndrome - genetics | Genetic Predisposition to Disease - genetics | Cooperative Behavior | Tremor - diagnosis | Ataxia - diagnosis | Mice, Knockout | Interdisciplinary Communication | Animals | Attention Deficit Disorder with Hyperactivity - genetics | Adolescent | Alleles | Primary Ovarian Insufficiency - diagnosis | Primary Ovarian Insufficiency - genetics | Sex Factors | Tremor - genetics | Fragile X Mental Retardation Protein - genetics | Mice | Models, Genetic | Referral and Consultation | Early Diagnosis | Genetic Carrier Screening | Fragile X Syndrome - diagnosis | Infants (Newborn) | Medical examination | Genetic aspects | Forecasts and trends | Diagnosis | Standards | Pediatrics | Genetic disorders | Genetic testing | Mutation | Medical screening | Medical diagnosis | Mental retardation | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article