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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2018, Volume 178, Issue 4, pp. 382 - 386
Due to the efforts of the clinical and scientific communities and boosted by recent advances in genetic technologies, we now understand the molecular... 
associations | malformations | molecular mechanisms | syndromes | IRDiRC | unsolved rare diseases | DEFECTS | MUTATION | GENETICS & HEREDITY | Consortia | Heterogeneity | Molecular modelling | Disorders | Data retrieval | Epigenetics | Mosaicism | New technology | Diagnosis
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 10/2017, Volume 38, Issue 10, pp. 1281 - 1285
Journal Article
Pathology, ISSN 0031-3025, 02/2016, Volume 48, pp. S31 - S32
Journal Article
Pathology, ISSN 0031-3025, 02/2016, Volume 48, pp. S30 - S30
Journal Article
Genetics, ISSN 0016-6731, 10/2014, Volume 198, Issue 2, pp. 443 - 443
Hieter and Boycott discuss the importance of model organisms for understanding pathogenesis of rare human genetic diseases. They highlight the work of Brooks... 
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2018, Volume 178, Issue 4, pp. 447 - 457
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 12/2017, Volume 19, Issue 12, pp. 1380 - 1380
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2019, Volume 179, Issue 4, pp. 674 - 746
Journal Article
Clinical Genetics, ISSN 0009-9163, 05/2019, Volume 95, Issue 5, pp. 601 - 606
The GTPBP2 gene encodes a guanosine triphosphate (GTP)‐binding protein of unknown function. Biallelic loss‐of‐function variants in the GTPBP2 gene have been... 
epilepsy | microcephaly | iron | ectodermal dysplasia | substantia nigra | GTPBP2 | GENETICS & HEREDITY | Dysplasia | Brain research | Pregnant women | Genes | Epilepsy | Genomics | Family | Boycotts | Protein binding | Literature reviews | Neonates | GTP-binding protein | Microencephaly | Guanosine | Retina | Iron | Children | Peripheral neuropathy | Movement disorders
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 05/2019, Volume 11, Issue 5, p. n/a
Rare diseases, which affect over 350 million people worldwide and frequently go undiagnosed or misdiagnosed for years, suffer from sparse and dispersed medical... 
MEDICINE, RESEARCH & EXPERIMENTAL | Initiatives | Funding | Diagnostic tests | Genomics | Innovations | Clinical trials | Research | Medical diagnosis | Patients | Consortia | Convulsions & seizures | Researchers | Collaboration | Diagnosis | Genetics, Gene Therapy & Genetic Disease | Biomarkers & Diagnostic Imaging
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2019, Volume 179, Issue 5, pp. 813 - 816
Neu–Laxova syndrome (NLS) is a lethal autosomal recessive microcephaly syndrome associated with intrauterine growth restriction (IUGR) and multiple congenital... 
cystic hygroma | exome sequencing | PHGDH | nuchal translucency | Neu–Laxova syndrome | DEFECTS | GENE | Neu-Laxova syndrome | GENETICS & HEREDITY | MUTATIONS | Genetic disorders | Codon | Diagnosis | Pregnant women | Genomics | Hypoplasia | Cerebellum | Edema | Brain stem | Congenital defects | Fetuses | Central nervous system | Pyramidal tracts | Genetic screening | Ichthyosis | Pregnancy | Prenatal diagnosis | Microencephaly | Skin | Arthrogryposis
Journal Article
Pathology, ISSN 0031-3025, 02/2016, Volume 48, pp. S31 - S31
Journal Article
Pathology, ISSN 0031-3025, 02/2016, Volume 48, pp. S30 - S30
Journal Article
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, p. 579
  Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by ocular, cutaneous, and central nervous system anomalies. Key clinical... 
Convulsions & seizures | Phosphorylation | Nervous system | Mutation | Deoxyribonucleic acid--DNA | Tumors
Journal Article
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