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1
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome
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PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome

Ko, Jung Min ; Kim, Jae-Min ; Kim, Gu-Hwan ; Yoo, Han-Wook

Journal of human genetics, 2008-12, Vol.53 (11-12), p.999-1006 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
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Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

Hiromi Aoi Takeshi Mizuguchi; Jose Ricard Ceroni; Veronica Eun Hue Kim; Isabel Furquim; Rachel S Honjo; Takuma Iwaki; Toshifumi Suzuki; Futoshi Sekiguchi; Chong Ae Kim

Journal of human genetics v. 64, n. 10, p. 967-978, 2019

New York 2019

Acesso online. A biblioteca também possui exemplares impressos.

3
Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population
Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population
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Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population

Lee, Yong-Ho ; Kang, Eun Seok ; Kim, So Hun ; Han, Seung Jin ; Kim, Chul Hoon ; Kim, Hyeong Jin ; Ahn, Chul Woo ; Cha, Bong Soo ; Nam, Moonsuk ; Nam, Chung Mo ; Lee, Hyun Chul

Journal of human genetics, 2008-12, Vol.53 (11-12), p.991-998 [Periódico revisado por pares]

England: Nature Publishing Group

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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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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
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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
Allelic frequencies and heterozygosities of microsatellite markers covering the whole genome in the Korean
Allelic frequencies and heterozygosities of microsatellite markers covering the whole genome in the Korean
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Allelic frequencies and heterozygosities of microsatellite markers covering the whole genome in the Korean

Park, M.-H. ; Kim, K.-S. ; Lee, H.-J. ; Cho, Y.-M. ; Lee, H.-K. ; Park, K.-S. ; Shin, D.-J. ; Jang, Y. ; Kim, K.-J. ; Jung, J. ; Kim, H.-L. ; Oh, B. ; Lee, J.-Y.

Journal of human genetics, 2008-03, Vol.53 (3), p.254-266 [Periódico revisado por pares]

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7
Allelic frequencies and heterozygosities of microsatellite markers covering the whole genome in the Korean
Allelic frequencies and heterozygosities of microsatellite markers covering the whole genome in the Korean
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Allelic frequencies and heterozygosities of microsatellite markers covering the whole genome in the Korean

Park, M-H ; Kim, K-S ; Lee, H-J ; Cho, Y-M ; Lee, H-K ; Park, K-S ; Shin, D-J ; Jang, Y ; Kim, K-J ; Jung, J ; Kim, H-L ; Oh, B ; Lee, J-Y

Journal of human genetics, 2008-03, Vol.53 (3), p.254-266 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Association of interleukin-6 promoter variant with bone mineral density in pre-menopausal women
Association of interleukin-6 promoter variant with bone mineral density in pre-menopausal women
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Association of interleukin-6 promoter variant with bone mineral density in pre-menopausal women

Chung, Hye Won ; Seo, Jeong-Sun ; Hur, Sung Eun ; Kim, Hyung Lae ; Kim, Jun Yeon ; Jung, Ji Hyun ; Kim, Lyoung Hyo ; Park, Byung Lae ; Shin, Hyoung Doo

Journal of human genetics, 2003-05, Vol.48 (5), p.243-248 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Germline mutations of the APC gene in Korean familial adenomatous polyposis patients
Germline mutations of the APC gene in Korean familial adenomatous polyposis patients
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Germline mutations of the APC gene in Korean familial adenomatous polyposis patients

Won, Y J ; Park, K J ; Kwon, H J ; Lee, J H ; Kim, J H ; Kim, Y J ; Chun, S H ; Han, H J ; Park, J G

Journal of human genetics, 1999-01, Vol.44 (2), p.103-108 [Periódico revisado por pares]

England

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10
Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy
Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy
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Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy

Ki, Cheong-Seok ; Kong, Sun-Young ; Seo, Dae Won ; Hong, Seung Bong ; Kim, Hyung-Jin ; Kim, Jong-Won

Journal of human genetics, 2003, Vol.48 (1), p.51-54 [Periódico revisado por pares]

England

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Deste Autor:

  1. Kim, C
  2. Kok, F
  3. Hegele, R
  4. Albano, L
  5. Marques-Dias, M

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Female

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

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