skip to main content
Idioma:
Primo Advanced Search
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search prefilters
Busca Simples
Refinado por: assunto: Mutation remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
1274-P: Prevalence and Clinical Characteristics of Monogenic Diabetes in Chinese Population
1274-P: Prevalence and Clinical Characteristics of Monogenic Diabetes in Chinese Population
Material Type:
Artigo 		Adicionar ao Meu Espaço

1274-P: Prevalence and Clinical Characteristics of Monogenic Diabetes in Chinese Population

TSOI, SANDRA ; LIM, CADMON K. ; MA, RONALD C. ; LAU, ERIC S. ; FAN, BAOQI ; CHOW, ELAINE ; KONG, ALICE P. ; CHAN, JULIANA C. ; LUK, ANDREA

Diabetes (New York, N.Y.), 2022-06, Vol.71 (Supplement_1) [Periódico revisado por pares]

New York: American Diabetes Association

Texto completo disponível

Citações Citado por
2
14 From Phenotype to Genotype: Using the 25-hydroxyvitamin D/24,25-Dihydroxyvitamin D Ratio As a Surrogate for CYP24A1 Mutation Status During Hypercalcemia Workup
14 From Phenotype to Genotype: Using the 25-hydroxyvitamin D/24,25-Dihydroxyvitamin D Ratio As a Surrogate for CYP24A1 Mutation Status During Hypercalcemia Workup
Material Type:
Artigo 		Adicionar ao Meu Espaço

14 From Phenotype to Genotype: Using the 25-hydroxyvitamin D/24,25-Dihydroxyvitamin D Ratio As a Surrogate for CYP24A1 Mutation Status During Hypercalcemia Workup

Sepiashvili, Lusia ; Milosevic, Dragana ; Fahse, Matthew ; Singh, Ravinder

American journal of clinical pathology, 2018-01, Vol.149 (suppl_1), p.S170-S171 [Periódico revisado por pares]

US: Oxford University Press

Texto completo disponível

Citações Citado por
3
16-OR: Endocrine Manifestations of Pediatric HNF1B-MODY (MODY 5)
16-OR: Endocrine Manifestations of Pediatric HNF1B-MODY (MODY 5)
Material Type:
Artigo 		Adicionar ao Meu Espaço

16-OR: Endocrine Manifestations of Pediatric HNF1B-MODY (MODY 5)

CRAVEN, MEGHAN E. ; BAMBA, VANEETA ; CALABRIA, ANDREW C. ; PINNEY, SARA E.

Diabetes (New York, N.Y.), 2021-06, Vol.70 (Supplement_1) [Periódico revisado por pares]

New York: American Diabetes Association

Texto completo disponível

Citações Citado por
4
17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review
17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review
Material Type:
Artigo 		Adicionar ao Meu Espaço

17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review

Isa, Hasan M ; Salman, Jr, Layla I ; Almaa, Jr, Zainab A ; Busehail, Mariam Y ; Alherz, Zahra A

Curēus (Palo Alto, CA), 2022-12, Vol.14 (12), p.e32233 [Periódico revisado por pares]

United States: Cureus Inc

Texto completo disponível

Citações Citado por
5
185 TRANSIENT RECEPTOR POTENTIAL CHANNEL-2 (TRPP2) REGULATES MOTILITY AND INTRACELLULAR CALCIUM OF PORCINE SPERM
185 TRANSIENT RECEPTOR POTENTIAL CHANNEL-2 (TRPP2) REGULATES MOTILITY AND INTRACELLULAR CALCIUM OF PORCINE SPERM
Material Type:
Artigo 		Adicionar ao Meu Espaço

185 TRANSIENT RECEPTOR POTENTIAL CHANNEL-2 (TRPP2) REGULATES MOTILITY AND INTRACELLULAR CALCIUM OF PORCINE SPERM

Daigneault, B. W ; Miller, D. J

Reproduction fertility and development, 2016, Vol.28 (2), p.223 [Periódico revisado por pares]

CSIRO Publishing

Texto completo disponível

Citações Citado por
6
1H, 13C and 15N backbone resonance assignments of hepatocyte nuclear factor-1-beta (HNF1β) POUS and POUHD
1H, 13C and 15N backbone resonance assignments of hepatocyte nuclear factor-1-beta (HNF1β) POUS and POUHD
Material Type:
Artigo 		Adicionar ao Meu Espaço

1H, 13C and 15N backbone resonance assignments of hepatocyte nuclear factor-1-beta (HNF1β) POUS and POUHD

Hokazono, Sayaka ; Imagawa, Eri ; Hirano, Daishi ; Ikegami, Takahisa ; Oishi, Kimihiko ; Konuma, Tsuyoshi

Biomolecular NMR assignments, 2024-06, Vol.18 (1), p.59-63 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

Texto completo disponível

Citações Citado por
7
220. AAV Mediated Gene Transfer of Smad7 in Different Models of Cystic Kidney Diseases
220. AAV Mediated Gene Transfer of Smad7 in Different Models of Cystic Kidney Diseases
Material Type:
Artigo 		Adicionar ao Meu Espaço

220. AAV Mediated Gene Transfer of Smad7 in Different Models of Cystic Kidney Diseases

Keppler, Andrea ; Leuchs, Barbara ; Stump, Carolin ; Dooley, Steven ; Kleinschmidt, Juergen ; Gretz, Norbert

Molecular therapy, 2006-05, Vol.13 (S1), p.S85-S85 [Periódico revisado por pares]

Milwaukee: Elsevier Limited

Texto completo disponível

Citações Citado por
8
25-hydroxyvitamin D-1α-hydroxylase (CYP27B1) induces ectopic calcification
25-hydroxyvitamin D-1α-hydroxylase (CYP27B1) induces ectopic calcification
Material Type:
Artigo 		Adicionar ao Meu Espaço

25-hydroxyvitamin D-1α-hydroxylase (CYP27B1) induces ectopic calcification

Yimamu, Yilimulati ; Ohtani, Ayako ; Takei, Yuichiro ; Furuichi, Airi ; Kamei, Yuki ; Yamanaka-Okumura, Hisami ; Ohminami, Hirokazu ; Masuda, Masashi ; Miyazaki, Makoto ; Yamamoto, Hironori ; Taketani, Yutaka

Journal of Clinical Biochemistry and Nutrition, 2022, Vol.71(2), pp.103-111 [Periódico revisado por pares]

Japan: SOCIETY FOR FREE RADICAL RESEARCH JAPAN

Texto completo disponível

Citações Citado por
9
254C>G SNP in the TRPC6 Gene Promoter Influences Its Expression via Interaction with the NF-κB Subunit RELA in Steroid-Resistant Nephrotic Syndrome Children
254C>G SNP in the TRPC6 Gene Promoter Influences Its Expression via Interaction with the NF-κB Subunit RELA in Steroid-Resistant Nephrotic Syndrome Children
Material Type:
Artigo 		Adicionar ao Meu Espaço

254C>G SNP in the TRPC6 Gene Promoter Influences Its Expression via Interaction with the NF-κB Subunit RELA in Steroid-Resistant Nephrotic Syndrome Children

Kuang, Xinyu ; Zhou, Qian ; Li, Zhuying ; Hu, Yujie ; Kang, Yulin ; Huang, Wenyan Jakubowski, Hieronim ; Hieronim Jakubowski

International journal of genomics, 2019, Vol.2019, p.2197837-7 [Periódico revisado por pares]

United States: Hindawi

Texto completo disponível

Citações Citado por
10
3 cardiomyopathies in cats-and what to do with them
3 cardiomyopathies in cats-and what to do with them
Material Type:
Artigo 		Adicionar ao Meu Espaço

3 cardiomyopathies in cats-and what to do with them

Smith, Eliza

DVM360, 2019-12, Vol.50 (12), p.36-38

Monmouth Junction: MultiMedia Healthcare Inc

Texto completo disponível

Citações Citado por

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Autor/Criador 

  1. Onuchic, L  (3)
  2. Fonseca, J  (1)
  3. Felix, W  (1)
  4. Bastos, A  (1)
  5. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de1987  (13)
  2. 1987Até1995  (37)
  3. 1996Até2004  (299)
  4. 2005Até2014  (1.313)
  5. Após 2014  (3.098)
  6. Mais opções open sub menu

Idioma 

  1. Inglês  (4.720)
  2. Japonês  (707)
  3. Alemão  (11)
  4. Português  (11)
  5. Francês  (10)
  6. Espanhol  (7)
  7. Turco  (4)
  8. Chinês  (3)
  9. Italiano  (2)
  10. Russo  (1)
  11. Hebraico  (1)
  12. Esloveno  (1)
  13. Romeno  (1)
  14. Norueguês  (1)
  15. Serbian  (1)
  16. Catalão  (1)
  17. Holandês  (1)
  18. Mais opções open sub menu

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Onuchic, L
  2. Fonseca, J
  3. Felix, W
  4. Bastos, A

Neste Assunto:

  1. Mutation
  2. Mutation
  3. Science & Technology
  4. Kidney Diseases
  5. Life Sciences & Biomedicine

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.