|
|
CrossRef Text and Data Mining | |
Result of CrossRef Text and Data Mining Search is the related articles with entitled article. If you click link1 or link2 you will be able to reach the full text site of selected articles; however, some links do not show the full text immediately at now. If you click CrossRef Text and Data Mining Download icon, you will be able to get whole list of articles from literature included in CrossRef Text and Data Mining. | |
De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism | |
Jung-Eun Moon, Su-Jeong Lee, Suk-Hyun Park, Jinsup Kim, Dong-Kyu Jin, Cheol Woo Ko | |
Ann Pediatr Endocrinol Metab. 2018;23(2):107-111. Published online June 20, 2018 DOI: https://doi.org/10.6065/apem.2018.23.2.107 |
|
De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism Novel de novo pathogenic variant in the NR2F2
gene in a boy with congenital heart defect and dysmorphic features eP168: A de novo variant in AMOTL1 gene in an adult with craniofacial abnormalities and previously unreported congenital diaphragmatic hernia Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus CORRIGENDUM FOR “A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness” A novel de novo
SLC26A3
mutation causing congenital chloride diarrhea in a Japanese neonate SAT-350 A Tale of Two Mutations: Familial Hypocalciuric Hypercalcemia Caused by a Novel CaSR Start Codon Mutation Found in the Setting of a CaSR Hypercalciuric Variant Congenital Central Hypoventilation Syndrome Caused by A de novo RET Pathogenic Variant Evidence of involvement of a novel VUS variant in the CHKB gene to congenital muscular dystrophy affection Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy |