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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:
Artículo 		Añadir a Mi Portal

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

Acceso en línea. La biblioteca tiene también copias físicas.

2
Cockayne syndrome type A novel mutations in eight typical patients
Cockayne syndrome type A novel mutations in eight typical patients
Material Type:
Artículo 		Añadir a Mi Portal

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

Disponible en FM - Fac. Medicina    (FM BCSEP 155 2006 )(Obténgalo)

3
Congenital genitourinary abnormalities in children with Williams-Beuren syndrome
Congenital genitourinary abnormalities in children with Williams-Beuren syndrome
Material Type:
Artículo 		Añadir a Mi Portal

Congenital genitourinary abnormalities in children with Williams-Beuren syndrome

Zein M. Sammour Cristiano M Gomes; Jose de Bessa Junior; Marcello S Pinheiro; Chong A. E Kim; Marcelo Hisano; Homero Bruschini; Miguel Srougi

Journal of Pediatric Urology Kidlington/England v. 10, p. 804-809, 2014

Kiddlington 2014

Disponible en FM - Fac. Medicina    (BCSEP 556 2014 )(Obténgalo)

4
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry
Material Type:
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The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry

Taccyanna M. Ali Bianca D. W Linnenkamp; Guilherme L Yamamoto; Rachel S Honjo; Hamilton Cabral de Menezes Filho; Chong Ae Kim; Debora R Bertola

American journal of medical genetics part a v. 188, n. 5, p. 1545-1549, 2022

Hoboken 2022

Acceso en línea. La biblioteca tiene también copias físicas.

5
Cockayne syndrome type A novel mutations in eight typical patients
Cockayne syndrome type A novel mutations in eight typical patients
Material Type:
Artículo 		Añadir a Mi Portal

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

Disponible en FM - Fac. Medicina    (FM BCSEP 155 2006 )(Obténgalo)

6
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
Material Type:
Artículo 		Añadir a Mi Portal

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

Acceso en línea. La biblioteca tiene también copias físicas.

7
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
Material Type:
Artículo 		Añadir a Mi Portal

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

Acceso en línea. La biblioteca tiene también copias físicas.

8
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
Material Type:
Artículo 		Añadir a Mi Portal

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome

Ariadne R. Lima Barbara M Ferreira; Chaofan Zhang; Angad Jolly; Haowei Du; Janson J White; Moez Dawood; Tulio C Lins; Marcela A Chiabai; Ellen van Beusekom; Mara S Cordoba; Erica C. C. Caldas Rosa; Hulya Kayserili; Virginia Kimonis; Erica Wu; Cecilia Mellado; Vineet Aggarwal; Antonio Richieri-Costa; Décio Brunoni; Talyta M Canó; Alexander A. L Jorge; Chong Ae Kim; Rachel Honjo; Débora R Bertola; Raissa M Dandalo-Girardi; Yavuz Bayram; Alper Gezdirici; Elif Yilmaz-Gulec; Evren Gumus; Gülay C Yilmaz; Nobuhiko Okamoto; Hirofumi Ohashi; Zeynep Coban–Akdemir; Tadahiro Mitani; Shalini N Jhangiani; Donna M Muzny; Neysa A. P Regattieri; Robert Pogue; Rinaldo W Pereira; Paulo A Otto; Richard A Gibbs; Bassam R Ali; Hans van Bokhoven; Han G Brunner; V. Reid Sutton; James R Lupski; Angela M Vianna-Morgante; Claudia M. B Carvalho; Juliana F Mazzeu

Human Mutation v. 43, n. 7, p. 900-918, July 2022

Hoboken 2022

Acceso en línea. La biblioteca tiene también copias físicas.

9
Insight into the ontogeny of GnRH neurons from patients born without a nose
Insight into the ontogeny of GnRH neurons from patients born without a nose
Material Type:
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Insight into the ontogeny of GnRH neurons from patients born without a nose

Angela Delaney Rita Volochayev; Brooke Meader; Janice Lee; Konstantinia Almpani; Germaine Y Noukelak; Jennifer Henkind; Laura Chalmers; Jennifer R Law; Kathleen A Williamson; Christina M Jacobsen; Tatiana Pineda Buitrago; Orlando Perez; Chie-Hee Cho; Angela Kaindl; Anita Rauch; Katharina Steindl; Jose Elias Garcia; Bianca E Russell; Rameshwar Prasad; Uttam K Mondal; Hallvard M Reigstad; Scott Clements; Susan Kim; Kaoru Inoue; Gazal Arora; Kathryn B Salnikov; Nicole P DiOrio; Rolando Prada; Yline Capri; Kosuke Morioka; Michiyo Mizota; Roseli Maria Zechi-Ceide; Nancy Mizue Kokitsu Nakata; Cristiano Tonello; Siulan Vendramini Paulovich Pittoli; Gisele da Silva Dalben; Ravikumar Balasubramanian; Andrew A Dwyer; Stephanie B Seminara; William F Crowley Júnior; Lacey Plummer; Janet E Hall; John M Graham Júnior; Angela E Lin; Natalie D Shaw

Journal of Clinical Endocrinology and Metabolism Washington v. 105, n. 5, p. 1538-1551, 2020

Washington 2020

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por este autor/creador:

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

con este tema:

  1. Mutação Genética
  2. Reação Em Cadeia Por Polimerase
  3. Imunofenotipagem
  4. Interleucina 1 (Deficiência)
  5. Doenças Autoimunes

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