CrossRef Text and Data Mining
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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

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De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism
Annals of Pediatric Endocrinology & Metabolism. 2018;23(2):107-111   Crossref logo
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Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features
American Journal of Medical Genetics Part A. 2018;176(6):1423-1426   Crossref logo
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Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis
American Journal of Ophthalmology. 2002;134(3):465-467   Crossref logo
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Congenital hypoplastic bone marrow failure associated with a de novo partial deletion of the MECOM gene at 3q26.2
Gene. 2018;656:86-94   Crossref logo
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Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease
Clinical Genetics. 2004;66(6):496-501   Crossref logo
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Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus
Case Reports in Nephrology and Dialysis. 2017;7(3):130-137   Crossref logo
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Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia
Congenital Anomalies. 2017;58(1):39-40   Crossref logo
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Congenital Diaphragmatic Hernia
Congenital Anomalies - From the Embryo to the Neonate. 2018;   Crossref logo
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Congenital Abdominal Anomalies
Congenital Anomalies - From the Embryo to the Neonate. 2018;   Crossref logo
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A novel de novo deletion of chromosome 7 [46,XX,del(7)(p14.2 p15.1)] in a child with feeding problems
Gene. 2012;503(1):152-154   Crossref logo
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