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American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2382 - 2388
We present a natural history of a 32‐year‐old man with Hajdu‐Cheney syndrome (HJCYS), because of the de novo truncating mutation in the exon 34 of NOTCH 2... 
NOTCH2 | mutation | morphological phenotype | craniofacial characteristics | Hajdu‐Cheney syndrome | phenotypical progression | Hajdu-Cheney syndrome | NOTCH2 mutation | GENETICS & HEREDITY | PHENOTYPE | Osteoporosis | Bones | Genetic aspects | Density | Analysis | Adolescence | Phenotypes | Dysplasia | Spine | Data acquisition | Teeth | Fractures | Life span | Dentition | Bone dysplasia | Bone mineral density | Skeleton | Children | Mutation
Journal Article
Clinical Genetics, ISSN 0009-9163, 09/2019, Volume 96, Issue 3, pp. 274 - 275
A patient harboring a novel p.Gly112Ser variant in FGF12 gene had a positive response to phenytoin/phenobarbital treatment. All the 11 previously reported... 
Epilepsy | Phenobarbital | Phenotypes | Phenytoin | Index Medicus
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2018, pp. 103557 - 103557
Trichothiodystrophy (TTD) is a group of predominantly autosomal recessive disorders characterized by sulfur-deficient brittle hair. Clinical features of TTD... 
Whole exome sequencing | DNA repair | Trichothiodystrophy | Collodion baby | Ichthyosis | Index Medicus
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2018, Volume 55, Issue 6, p. 408
BackgroundIchthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis... 
Journal Article
Journal Article
Fertility and Sterility, ISSN 0015-0282, 2012, Volume 97, Issue 6, pp. 1380 - 1386.e1
Journal Article
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