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Journal Article
Journal of Obstetrics and Gynaecology Research, ISSN 1341-8076, 03/2018, Volume 44, Issue 3, pp. 570 - 575
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 05/2011, Volume 75, Issue 3, pp. 439 - 445
The prevalence of hypophosphatasia (HP), a rare metabolic disorder due to loss-of-function mutations in the ALPL gene, has never been estimated in the European... 
Bone
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2015, Volume 58, Issue 3, pp. 140 - 147
Abstract Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion... 
Medical Education | CYFIP1 | BP1–BP2 | 15q11.2 microdeletion | NIPA1 | TUBGCP5 | Congenital heart disease | NIPA2 | COPY-NUMBER VARIANTS | ANGELMAN-SYNDROME | DISORDERS | DELETION | CHILDHOOD ABSENCE EPILEPSY | GENETICS & HEREDITY | RECURRENT MICRODELETIONS | 4 GENES | BP1-BP2 | PRADER-WILLI-SYNDROME | CRITICAL REGION | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Middle Aged | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Heart Diseases - congenital | DNA Copy Number Variations | Intellectual Disability - genetics | Young Adult | Mental Disorders - genetics | Adult | Epilepsy - genetics | Female | Membrane Proteins - metabolism | Mental Disorders - diagnosis | Child | Developmental Disabilities - diagnosis | Chromosome Deletion | Membrane Proteins - genetics | Speech Disorders - genetics | In Situ Hybridization, Fluorescence | Chromosomes, Human, Pair 15 - genetics | Epilepsy - diagnosis | Heart Diseases - diagnosis | Phenotype | Attention Deficit Disorder with Hyperactivity - genetics | Comparative Genomic Hybridization | Child Development Disorders, Pervasive - genetics | Intellectual Disability - diagnosis | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Chromosome Aberrations | Adaptor Proteins, Signal Transducing - metabolism | Heart Diseases - genetics | Cohort Studies | Genetic disorders | Cardiac patients | Epilepsy | Cytogenetics | Seizures (Medicine) | Heart diseases | Life Sciences | Genetics | Human genetics
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 05/2011, Volume 75, Issue 3, pp. 439 - 445
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 11/2008, Volume 28, Issue 11, pp. 993 - 998
Journal Article
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