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Clinical Genetics, ISSN 0009-9163, 12/2015, Volume 88, Issue 6, pp. 531 - 531
Journal Article
Clinical Genetics, ISSN 0009-9163, 06/2014, Volume 85, Issue 6, pp. 534 - 535
A dominant‐negative GFI1B mutation in the gray platelet syndrome. Monteferrari, et al. (2014) N Engl J Med; 370(3):245–253. 
NBEAL2 | GENETICS & HEREDITY | Blood Platelets - pathology | Megakaryocytes - pathology | Humans | Gray Platelet Syndrome - genetics | Repressor Proteins - genetics | Female | Male | Proto-Oncogene Proteins - genetics | Mutation | Genetics | Blood platelets | Blood diseases | Index Medicus
Journal Article
Clinical Genetics, ISSN 0009-9163, 09/2014, Volume 86, Issue 3, pp. 218 - 219
EIF2AK4 mutations cause pulmonary veno‐occlusive disease, a recessive form of pulmonary hypertension. Eyries et al. (2014) Nature Genetics 46(1):65–69. 
GENETICS & HEREDITY | Pulmonary Veno-Occlusive Disease - genetics | Female | Male | Mutation | Humans | Protein-Serine-Threonine Kinases - genetics | Gene mutations | Lung diseases | Genetic aspects | Genetic disorders | Respiratory diseases | Pulmonary hypertension | Index Medicus
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2015, Volume 88, Issue 6, pp. 531 - 531
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2015, Volume 88, Issue 6, pp. 532 - 532
Journal Article
Clinical Genetics, ISSN 0009-9163, 09/2013, Volume 84, Issue 3, pp. 209 - 209
De novo mutations in the autophagy gene encoding WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood Saitsu et al. (2013) Nature... 
GENETICS & HEREDITY | Carrier Proteins - genetics | Exome - genetics | Spasms, Infantile - etiology | Neurodegenerative Diseases - etiology | Humans | Female | Intellectual Disability - etiology | Mutation - genetics | Autophagy | Encephalopathy | Genetic aspects | Adults | Encephalitis | Genetic disorders | Mutation | Neurological disorders | Index Medicus | Children
Journal Article
Clinical Genetics, ISSN 0009-9163, 06/2014, Volume 85, Issue 6, pp. 533 - 534
Table S1. Oligonucleotides used for the screening of the c.985A>G mutation and for haplotype identification in the ACADM gene 
GENETICS & HEREDITY | Anticoagulants - administration & dosage | Humans | Aryl Hydrocarbon Hydroxylases - genetics | Female | Genotype | Male | Warfarin - administration & dosage | Vitamin K Epoxide Reductases - genetics | Pharmacogenetics | Warfarin | Index Medicus
Journal Article
Clinical Genetics, ISSN 0009-9163, 01/2013, Volume 83, Issue 1, pp. 31 - 32
Loss‐of‐function mutations in HINT1 cause axonal neuropathy with neuromyotonia Zimoń et al. (2012) Nature Genetics 44 (10):1080–1083. 
GENETICS & HEREDITY | Genomics | Neurological disorders | Mutation
Journal Article
Clinical Genetics, ISSN 0009-9163, 04/2013, Volume 83, Issue 4, pp. 319 - 320
Missense mutations in the sodium‐gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy Heron et al. (2012) Nature... 
GENETICS & HEREDITY | Epilepsy | Mutation | Anatomy & physiology
Journal Article
Clinical Genetics, ISSN 0009-9163, 09/2014, Volume 86, Issue 3, pp. 218 - 219
Journal Article
Clinical Genetics, ISSN 0009-9163, 06/2014, Volume 85, Issue 6, pp. 533 - 534
Journal Article
Clinical Genetics, ISSN 0009-9163, 06/2014, Volume 85, Issue 6, pp. 534 - 535
Journal Article
Clinical Genetics, ISSN 0009-9163, 01/2013, Volume 83, Issue 1, pp. 32 - 33
Heterozygous de novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole‐exome sequencing gene‐identification study. Rosewich et... 
GENETICS & HEREDITY | Hemiplegia | Genetic aspects | Pediatrics | Mutation | Paralysis | Genomics | Children
Journal Article
Clinical Genetics, ISSN 0009-9163, 09/2013, Volume 84, Issue 3, pp. 209 - 209
Journal Article
Clinical Genetics, ISSN 0009-9163, 04/2013, Volume 83, Issue 4, pp. 319 - 320
Journal Article
Clinical Genetics, ISSN 0009-9163, 01/2013, Volume 83, Issue 1, pp. 32 - 33
Journal Article
Clinical Genetics, ISSN 0009-9163, 01/2013, Volume 83, Issue 1, pp. 31 - 32
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2018, Volume 50, Issue 8, pp. 1081 - 1085
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 04/2018, Volume 177, Issue 3, pp. 346 - 357
Journal Article
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