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Refinado por: assunto: Mutação Genética remover
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1
Mutation Analysis of EDG2 (LPAR1) and GPR26 in the Patients with Precocious Puberty
Mutation Analysis of EDG2 (LPAR1) and GPR26 in the Patients with Precocious Puberty
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutation Analysis of EDG2 (LPAR1) and GPR26 in the Patients with Precocious Puberty

Hiromi Nishimoto Hyung-Goo Kim; Lawrence Layman; Ana C Latronico; ENDO 2012: The Endocrine Society's 94th Annual Meeting & Expo 94 2012 Houston, Texas

Endocrine Reviews Chevy Chase v. 33, 03_meetingAbstracts, Res. SAT-687, 2012

Chevy Chase 2012

Acesso online. A biblioteca também possui exemplares impressos.

2
Heterogeneidade genética na síndrome de Robinow
Heterogeneidade genética na síndrome de Robinow
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Heterogeneidade genética na síndrome de Robinow

Juliana Forte Mazzeu H. G Brunner; H Van Bokhoven; B Hamel; Décio Brunoni; C. A Kim; Lúcia Regina Martelli; I Gomy; Angela M Vianna-Morgante; Congresso Brasileiro de Genética (50. 2004 Florianópolis)

Resumo Florianópolis, 2004

São Paulo 2004

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1398964 ) e outros locais(Acessar)

3
Screening of patients with trigonocephaly with markers from the 9p and 11q regions
Screening of patients with trigonocephaly with markers from the 9p and 11q regions
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Screening of patients with trigonocephaly with markers from the 9p and 11q regions

Fernanda Sarquis Jehee D Johnson; L Alonso; K Abe; N Alonso; Hamilton Matushita; C Kim; S Cavalheiro; S. A Wall; A. O. M Wilkie; Maria Rita Passos-Bueno; Annual Meeting of the American Society of Human Genetics (52. 2002 Baltimore)

Abstracts v. 71, n. 4, suppl., p. 514 res.2017, oct. 2002

Baltimore 2002

Item não circula. Consulte sua biblioteca.(Acessar)

4
Cockayne syndrome type A novel mutations in eight typical patients
Cockayne syndrome type A novel mutations in eight typical patients
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Artigo 		Adicionar ao Meu Espaço

Cockayne syndrome type A novel mutations in eight typical patients

Debora R. Bertola Henian Cao; Lilian M. J Albano; Fernando Kok; Maria Joaquina Marques-Dias; Chong A Kim; Robert A Hegele

Journal of human genetics Tokyo v.51, n.8, p.701-705, 2006

Tokyo 2006

Localização: FM - Fac. Medicina    (FM BCSEP 155 2006 )(Acessar)

5
Cockayne syndrome type A novel mutations in eight typical patients
Cockayne syndrome type A novel mutations in eight typical patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Cockayne syndrome type A novel mutations in eight typical patients

Debora R. Bertola Henian Cao; Lilian M. J Albano; Fernando Kok; Maria Joaquina Marques-Dias; Chong A Kim; Robert A Hegele

Journal of human genetics Tokyo v.51, n.8, p.701-705, 2006

Tokyo 2006

Localização: FM - Fac. Medicina    (FM BCSEP 155 2006 )(Acessar)

6
Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers
Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers
Material Type:
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Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers

Eugene J. Wyatt Alexis R Demonbreun; Ellis Y Kim; Megan J Puckelwartz; Andy H Vo; Lisa M Dellefave-Castillo; Quan Q Gao; Mariz Vainzof; Rita C M Pavanello; Mayana Zatz; Elizabeth M McNally

JCI Insight Ann Arbor v. 3, n. 9, art. e99357, 2018

Ann Arbor 2018

Item não circula. Consulte sua biblioteca.(Acessar)

7
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures"
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures"
Material Type:
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Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures"

Alice Costantini Helena Valta; Nissan Vida Baratang; Patrick Yap; Debora R Bertola; Guilherme L Yamamoto; Chong A Kim; Jiani Chen; Klaas J Wierenga; Elizabeth A Fanning

Bone v. 121, p. 163-171, 2019

New York 2019

Acesso online. A biblioteca também possui exemplares impressos.

8
Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy
Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy

C. A. Kim Marc Delépine; Emilie Boutet; Haquima El Mourabit; Soazig Le Lay; Muriel Meier; Mona Nemani; Etienne Bridel; Claudia C Leite; Debora R Bertola; Robert K Semple; Stephen O’Rahilly; Isabelle Dugail; Jacqueline Capeau; Mark Lathrop; Jocelyne Magre

Journal of Clinical Endocrinology and Metabolism Philadelphia v. 93, n. 4, p. 1129-1134, 2008

Philadelphia 2008

Acesso online. A biblioteca também possui exemplares impressos.

9
A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome
A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome
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A Novel Mutation of IL1RN in the Deficiency of Interleukin-1 Receptor Antagonist Syndrome

Adriana A. Jesus Mazen Osman; Clovis A Silva; Peter W Kim; Tuyet-Hang Pham; Massimo Gadina; Barbara Yang; Débora R Bertola; Magda Carneiro-Sampaio; Polly J Ferguson; Blair R Renshaw; Ken Schooley; Michael Brown; Asma Al-Dosari; Jamil Al-Alami; John E Sims; Raphaela Goldbach-Mansky; Hatem El-Shanti

Arthritis & Rheumatism New York v. 63, n. 12, p. 4007-4017, 2011

New York 2011

Acesso online. A biblioteca também possui exemplares impressos.

10
Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy
Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy

C. A. Kim Marc Delépine; Emilie Boutet; Haquima El Mourabit; Soazig Le Lay; Muriel Meier; Mona Nemani; Etienne Bridel; Claudia C Leite; Debora R Bertola; Robert K Semple; Stephen O’Rahilly; Isabelle Dugail; Jacqueline Capeau; Mark Lathrop; Jocelyne Magre

Journal of Clinical Endocrinology and Metabolism Philadelphia v. 93, n. 4, p. 1129-1134, 2008

Philadelphia 2008

Acesso online. A biblioteca também possui exemplares impressos.

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Deste Autor:

  1. Kim, C
  2. Bertola, D
  3. Kim, P
  4. Jesus, A
  5. Gadina, M

Neste Assunto:

  1. Fenótipos
  2. Reação Em Cadeia Por Polimerase
  3. Imunofenotipagem
  4. Hirsutismo (Fisiopatologia)
  5. Tecido Adiposo (Patologia)

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

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