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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
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논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
Annals of Pediatirc Endocrinology & Metabolism
2021 .01
A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
Annals of Pediatirc Endocrinology & Metabolism
2018 .01
Prenatal diagnosis of 4p deletion syndrome: A case series report
Journal of genetic medicine
2017 .01
Prenatal diagnosis of 5p deletion syndrome: A case series report
Journal of genetic medicine
2017 .01
Effects of e2f3 gene deletion in mice
한국실험동물학회 학술발표대회 논문집
2020 .02
A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
Journal of genetic medicine
2015 .01
Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?
Environmental Analysis Health and Toxicology
2017 .12
Chromosome 11q13 deletion syndrome
Korean journal of pediatrics
2016 .01
Terminal Deletion of the Chromosome 4q with Hemivertebra: Case Report
Perinatology
2020 .01
14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay
Neonatal medicine
2020 .01
A case of de novo 18p deletion syndrome with panhypopituitarism
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
Delayed Diagnosis of Chromosome 22q11.2 Deletion Syndrome Due to Late-Onset Generalized Epilepsy
Journal of Clinical Neurology
2020 .01
A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism
Journal Of Movement Disorders
2024 .04
Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome
Annals of Laboratory Medicine
2015 .01
1p36 Deletion syndrome Presenting with Various Epileptic Semiologies
대한소아신경학회지
2015 .12
A Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3
Annals of Rehabilitation Medicine
2017 .01
De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case
Korean journal of pediatrics
2015 .01
Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets
Annals of Pediatirc Endocrinology & Metabolism
2020 .01
Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development
Annals of Laboratory Medicine
2018 .01
Surprising Course of a Pregnant Patient With Mosaic Turner Syndrome
Korean Circulation Journal
2024 .07
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