지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2024.4
- 수록면
- 236 - 238 (3page)
- DOI
- https://doi.org/10.14802/jmd.23222
이용수
초록· 키워드
오류제보하기
Deletions of the short arm of chromosome 18 encompassing the GNAL gene are associated with 18p deletion syndrome; the clinical features of this syndrome include facial dysmorphism, short stature, mental retardation, and movement disorders, particularly dystonia
목차
등록된 정보가 없습니다.
참고문헌 (0)
참고문헌 신청함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Tremulous Dystonia Due to GNAL Haploinsufficiency Caused by 18p Deletion Syndrome
Journal Of Movement Disorders
2024 .07
-
The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6
Journal Of Movement Disorders
2019 .01
-
Prenatal diagnosis of 5p deletion syndrome: A case series report
Journal of genetic medicine
2017 .01
-
Prenatal diagnosis of 4p deletion syndrome: A case series report
Journal of genetic medicine
2017 .01
-
A Case of Partial Short Arm Deletion in Chromosome 9 with Inguinal Hernia, Testicular Cystic Lesion, and Arthrogryposis Multiplex Congenita
Neonatal medicine
2017 .01
-
Effects of e2f3 gene deletion in mice
한국실험동물학회 학술발표대회 논문집
2020 .02
-
Task-Specific Oromandibular Dystonia in a Telemarketer
Journal Of Movement Disorders
2019 .01
-
Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
Journal of genetic medicine
2018 .01
-
A case of de novo 18p deletion syndrome with panhypopituitarism
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
-
Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development
Annals of Laboratory Medicine
2018 .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
-
Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome
Annals of Laboratory Medicine
2015 .01
-
Botulinum Toxin Injection Therapy for Lingual Dystonia: A Case Report
Journal of Oral Medicine and Pain
2022 .09
-
X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female
대한골대사학회지
2017 .01
-
An Elderly Woman with Reversal of Clinical Presentation Mimicking Rapid-Onset Dystonia-Parkinsonism
Journal of Clinical Neurology
2018 .01
-
뇌성마비로 인한 근육긴장이상(Dystonia) 치험 1례
대한한방내과학회지
2016 .01
-
A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
Journal of genetic medicine
2015 .01
-
Chromosome 11q13 deletion syndrome
Clinical and Experimental Pediatrics
2016 .01
-
Delayed Diagnosis of Chromosome 22q11.2 Deletion Syndrome Due to Late-Onset Generalized Epilepsy
Journal of Clinical Neurology
2020 .01
최근 본 자료
댓글(0)
0