Novel CLTC variants cause new brain and kidney phenotypes (2022)
- Authors:
- Autor USP: KIM, CHONG AE - FM
- Unidade: FM
- DOI: 10.1038/s10038-021-00957-3
- Subjects: GENÉTICA MÉDICA; RIM; SINAIS E SINTOMAS; FENÓTIPOS
- Agências de fomento:
- Agency for Medical Research and Development (AMED)Japan Agency for Medical Research and Development (AMED)
- Japan Society for the Promotion of Science (JSPS) KAKENHIMinistry of Education, Culture, Sports, Science and Technology, Japan (MEXT)Japan Society for the Promotion of ScienceGrants-in-Aid for Scientific Research (KAKENHI)
- Takeda Science FoundationTakeda Science Foundation (TSF)
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Journal of human genetics
- ISSN: 1434-5161
- Volume/Número/Paginação/Ano: v. 67, n. 1, p. 1-7, 2022
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
ITAI, Toshiyuki et al. Novel CLTC variants cause new brain and kidney phenotypes. Journal of human genetics, v. 67, n. 1, p. 1-7, 2022Tradução . . Disponível em: https://doi.org/10.1038/s10038-021-00957-3. Acesso em: 24 abr. 2024. -
APA
Itai, T., Miyatake, S., Tsuchida, N., Saida, K., Narahara, S., Tsuyusaki, Y., et al. (2022). Novel CLTC variants cause new brain and kidney phenotypes. Journal of human genetics, 67( 1), 1-7. doi:10.1038/s10038-021-00957-3 -
NLM
Itai T, Miyatake S, Tsuchida N, Saida K, Narahara S, Tsuyusaki Y, Castro MAA, Kim CA, Okamoto N, Uchiyama Y. Novel CLTC variants cause new brain and kidney phenotypes [Internet]. Journal of human genetics. 2022 ; 67( 1): 1-7.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1038/s10038-021-00957-3 -
Vancouver
Itai T, Miyatake S, Tsuchida N, Saida K, Narahara S, Tsuyusaki Y, Castro MAA, Kim CA, Okamoto N, Uchiyama Y. Novel CLTC variants cause new brain and kidney phenotypes [Internet]. Journal of human genetics. 2022 ; 67( 1): 1-7.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1038/s10038-021-00957-3 - Caracterização clínico-laboratorial das Síndromes de Williams-Beuren e de Noonan
- Advantages of early replacement therapy for mucopolysaccharidosis type VI: Echocardiographic follow-up of siblings
- Mowat-Wilson syndrome: Neurological and molecular study in seven patients
- Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome
- Investigação da variação no número de cópias gênicas em crianças com defeito cardíaco conotruncal
- CD4+CD25highFoxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis
- Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures"
- Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
- The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry
- Cri-du-Chat Syndrome: revealing a familial atypical seletion in 5p
Informações sobre o DOI: 10.1038/s10038-021-00957-3 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
