共 19 条
[1]
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States
[J].
Abell, Katherine
;
Chadwell, Sarah E.
;
Burrow, Thomas Andrew
;
Becker, Ana Paula Pizzio
;
Bailey, Laurie
;
Steele, Paul
;
Zhang, Xue
;
Islas-Ohlmayer, Miguel
;
Bittencourt, Rosane
;
Schwartz, Ida Vanessa Doederlein
;
Prada, Carlos E.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS,
2020, 184 (04)
:1052-1059

Abell, Katherine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA
Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA
Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

Chadwell, Sarah E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA
Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

Burrow, Thomas Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Arkansas Med Sci, Dept Pediat, Little Rock, AR 72205 USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

Becker, Ana Paula Pizzio
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Rio Grande do Sul, Med Sch, Porto Alegre, RS, Brazil Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

Bailey, Laurie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA
Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

Steele, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA
Cincinnati Childrens Hosp Med Ctr, Div Pathol, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

Zhang, Xue
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

Islas-Ohlmayer, Miguel
论文数: 0 引用数: 0
h-index: 0
机构:
Jewish Hosp, Mercy Hlth, Cincinnati, OH USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

Bittencourt, Rosane
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Clin Porto Alegre, Hematol Serv, Porto Alegre, RS, Brazil Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

Schwartz, Ida Vanessa Doederlein
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Rio Grande do Sul, Dept Genet, Porto Alegre, RS, Brazil
Hosp Clin Porto Alegre, Med Genet Serv & Clin Res Ctr, Porto Alegre, RS, Brazil Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

Prada, Carlos E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA
Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA
[2]
Generalized hypertrichosis syndromes in Mexico
[J].
Alejandra Aguayo-Orozco, Thania
;
Estela Rios-Gonzalez, Blanca
;
Gabriela Castro-Martinez, Anna
;
Virginia Ruiz-Ramirez, Andrea
;
Figuera, Luis E.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS,
2020, 184 (04)
:1014-1022

Alejandra Aguayo-Orozco, Thania
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Mexicano Seguro Social, Ctr Invest Biomed Occidente, Div Genet, Guadalajara, Jalisco, Mexico
Univ Guadalajara, Ctr Univ Ciencias Salud, Genet Humana, Guadalajara, Jalisco, Mexico Inst Mexicano Seguro Social, Ctr Invest Biomed Occidente, Div Genet, Guadalajara, Jalisco, Mexico

Estela Rios-Gonzalez, Blanca
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Mexicano Seguro Social, Unidad Med Familiar 92, Guadalajara, Jalisco, Mexico Inst Mexicano Seguro Social, Ctr Invest Biomed Occidente, Div Genet, Guadalajara, Jalisco, Mexico

Gabriela Castro-Martinez, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Guadalajara, Fac Med, Dept Genet, Guadalajara, Jalisco, Mexico Inst Mexicano Seguro Social, Ctr Invest Biomed Occidente, Div Genet, Guadalajara, Jalisco, Mexico

Virginia Ruiz-Ramirez, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Mexicano Seguro Social, Ctr Invest Biomed Occidente, Div Genet, Guadalajara, Jalisco, Mexico
Univ Guadalajara, Ctr Univ Ciencias Salud, Genet Humana, Guadalajara, Jalisco, Mexico Inst Mexicano Seguro Social, Ctr Invest Biomed Occidente, Div Genet, Guadalajara, Jalisco, Mexico

Figuera, Luis E.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Mexicano Seguro Social, Ctr Invest Biomed Occidente, Div Genet, Guadalajara, Jalisco, Mexico
Univ Guadalajara, Ctr Univ Ciencias Salud, Genet Humana, Guadalajara, Jalisco, Mexico Inst Mexicano Seguro Social, Ctr Invest Biomed Occidente, Div Genet, Guadalajara, Jalisco, Mexico
[3]
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil
[J].
Bertola, Debora R.
;
Castro, Matheus A. A.
;
Yamamoto, Guilherme L.
;
Honjo, Rachel S.
;
Ceroni, Jose Ricardo
;
Buscarilli, Michele M.
;
Freitas, Amanda B.
;
Malaquias, Alexsandra C.
;
Pereira, Alexandre C.
;
Jorge, Alexander A. L.
;
Passos-Bueno, Maria Rita
;
Kim, Chong A.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS,
2020, 184 (04)
:896-911

Bertola, Debora R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil
Univ Sao Paulo, Inst Biociencias, Sao Paulo, Brazil Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil

Castro, Matheus A. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil

Yamamoto, Guilherme L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil

Honjo, Rachel S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil

Ceroni, Jose Ricardo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil

Buscarilli, Michele M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil

Freitas, Amanda B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil

Malaquias, Alexsandra C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Disciplina Endocrinol, Unidade Endocrinol Genet,LIM 25, Sao Paulo, Brazil Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil

Pereira, Alexandre C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Hosp Clin, Lab Genet & Cardiol Mol,Inst Coracao, Sao Paulo, Brazil Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil

Jorge, Alexander A. L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Disciplina Endocrinol, Unidade Endocrinol Genet,LIM 25, Sao Paulo, Brazil Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil

Passos-Bueno, Maria Rita
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Inst Biociencias, Sao Paulo, Brazil Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil

Kim, Chong A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil
[4]
Skeletal dysplasias in Latin America
[J].
Cavalcanti, Denise P.
;
Fano, Virginia
;
Mellado, Cecilia
;
Lacarrubba-Flores, Maria Dora J.
;
Silveira, Cynthia
;
Silveira, Karina C.
;
del Pino, Mariana
;
Moresco, Angelica
;
Caino, Silvia
;
Ramos Mejia, Rosario
;
Garcia, Cristian J.
;
Lay-Son, Guillermo
;
Ferreira, Carlos R.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS,
2020, 184 (04)
:986-995

Cavalcanti, Denise P.
论文数: 0 引用数: 0
h-index: 0
机构:
State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil

Fano, Virginia
论文数: 0 引用数: 0
h-index: 0
机构:
Garrahan Hosp, Dept Growth & Dev, Buenos Aires, DF, Argentina State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil

Mellado, Cecilia
论文数: 0 引用数: 0
h-index: 0
机构:
Pontificia Univ Catolica Chile, Fac Med, Div Pediat, Study Grp Genet Skeletal Abnormal,Genet Unit, Santiago, Chile State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil

Lacarrubba-Flores, Maria Dora J.
论文数: 0 引用数: 0
h-index: 0
机构:
State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil

Silveira, Cynthia
论文数: 0 引用数: 0
h-index: 0
机构:
State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil

Silveira, Karina C.
论文数: 0 引用数: 0
h-index: 0
机构:
State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil

del Pino, Mariana
论文数: 0 引用数: 0
h-index: 0
机构:
Garrahan Hosp, Dept Growth & Dev, Buenos Aires, DF, Argentina State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil

Moresco, Angelica
论文数: 0 引用数: 0
h-index: 0
机构:
Garrahan Hosp, Dept Genet, Buenos Aires, DF, Argentina State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil

Caino, Silvia
论文数: 0 引用数: 0
h-index: 0
机构:
Garrahan Hosp, Dept Growth & Dev, Buenos Aires, DF, Argentina State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil

Ramos Mejia, Rosario
论文数: 0 引用数: 0
h-index: 0
机构:
Garrahan Hosp, Dept Growth & Dev, Buenos Aires, DF, Argentina State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil

Garcia, Cristian J.
论文数: 0 引用数: 0
h-index: 0
机构:
Pontificia Univ Catolica Chile, Dept Radiol, Study Grp Genet Skeletal Abnormal, Fac Med, Santiago, Chile State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil

Lay-Son, Guillermo
论文数: 0 引用数: 0
h-index: 0
机构:
Pontificia Univ Catolica Chile, Fac Med, Div Pediat, Study Grp Genet Skeletal Abnormal,Genet Unit, Santiago, Chile State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil

Ferreira, Carlos R.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA State Univ Campinas UNICAMP, Fac Med Sci, Skeletal Dysplasia Grp, Dept Med Genet, Sao Paulo, Brazil
[5]
Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c.1292C>A and phenotypic profile of patients
[J].
Dumois-Petersen, Sofia
;
Gallegos-Arreola, Martha P.
;
Magana-Torres, Maria T.
;
Perea-Diaz, Francisco J.
;
Ringman, John M.
;
Figuera, Luis E.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS,
2020, 184 (04)
:1023-1029

Dumois-Petersen, Sofia
论文数: 0 引用数: 0
h-index: 0
机构:
IMSS, Div Genet, Ctr Invest Biomed Occidente, Guadalajara, Jalisco, Mexico
CUCS UdeG, Doctorado Genet Humana, Guadalajara, Jalisco, Mexico IMSS, Div Genet, Ctr Invest Biomed Occidente, Guadalajara, Jalisco, Mexico

Gallegos-Arreola, Martha P.
论文数: 0 引用数: 0
h-index: 0
机构:
IMSS, Div Genet, Ctr Invest Biomed Occidente, Guadalajara, Jalisco, Mexico IMSS, Div Genet, Ctr Invest Biomed Occidente, Guadalajara, Jalisco, Mexico

Magana-Torres, Maria T.
论文数: 0 引用数: 0
h-index: 0
机构:
IMSS, Div Genet, Ctr Invest Biomed Occidente, Guadalajara, Jalisco, Mexico IMSS, Div Genet, Ctr Invest Biomed Occidente, Guadalajara, Jalisco, Mexico

Perea-Diaz, Francisco J.
论文数: 0 引用数: 0
h-index: 0
机构:
IMSS, Div Genet, Ctr Invest Biomed Occidente, Guadalajara, Jalisco, Mexico IMSS, Div Genet, Ctr Invest Biomed Occidente, Guadalajara, Jalisco, Mexico

Ringman, John M.
论文数: 0 引用数: 0
h-index: 0
机构:
Keck Sch Med USC, Dept Neurol, Los Angeles, CA USA IMSS, Div Genet, Ctr Invest Biomed Occidente, Guadalajara, Jalisco, Mexico

Figuera, Luis E.
论文数: 0 引用数: 0
h-index: 0
机构:
IMSS, Div Genet, Ctr Invest Biomed Occidente, Guadalajara, Jalisco, Mexico
CUCS UdeG, Doctorado Genet Humana, Guadalajara, Jalisco, Mexico IMSS, Div Genet, Ctr Invest Biomed Occidente, Guadalajara, Jalisco, Mexico
[6]
Human recombinant lysosomal β-Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay-Sachs fibroblasts
[J].
Espejo-Mojica, Angela J.
;
Rodriguez-Lopez, Alexander
;
Li, Rong
;
Zheng, Wei
;
Almeciga-Diaz, Carlos J.
;
Dulcey-Sepulveda, Cindy
;
Combariza, German
;
Barrera, Luis A.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS,
2020, 184 (04)
:885-895

Espejo-Mojica, Angela J.
论文数: 0 引用数: 0
h-index: 0
机构:
Pontificia Univ Javeriana, Fac Sci, Inst Study Inborn Errors Metab, Bogota, Colombia Pontificia Univ Javeriana, Fac Sci, Inst Study Inborn Errors Metab, Bogota, Colombia

Rodriguez-Lopez, Alexander
论文数: 0 引用数: 0
h-index: 0
机构:
Pontificia Univ Javeriana, Fac Sci, Inst Study Inborn Errors Metab, Bogota, Colombia Pontificia Univ Javeriana, Fac Sci, Inst Study Inborn Errors Metab, Bogota, Colombia

Li, Rong
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Adv Translat Sci, Bldg 10, Bethesda, MD 20892 USA Pontificia Univ Javeriana, Fac Sci, Inst Study Inborn Errors Metab, Bogota, Colombia

Zheng, Wei
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Adv Translat Sci, Bldg 10, Bethesda, MD 20892 USA Pontificia Univ Javeriana, Fac Sci, Inst Study Inborn Errors Metab, Bogota, Colombia

Almeciga-Diaz, Carlos J.
论文数: 0 引用数: 0
h-index: 0
机构:
Pontificia Univ Javeriana, Fac Sci, Inst Study Inborn Errors Metab, Bogota, Colombia Pontificia Univ Javeriana, Fac Sci, Inst Study Inborn Errors Metab, Bogota, Colombia

Dulcey-Sepulveda, Cindy
论文数: 0 引用数: 0
h-index: 0
机构:
Pontificia Univ Javeriana, Fac Sci, Dept Math, Bogota, Colombia Pontificia Univ Javeriana, Fac Sci, Inst Study Inborn Errors Metab, Bogota, Colombia

Combariza, German
论文数: 0 引用数: 0
h-index: 0
机构:
Pontificia Univ Javeriana, Fac Sci, Dept Math, Bogota, Colombia Pontificia Univ Javeriana, Fac Sci, Inst Study Inborn Errors Metab, Bogota, Colombia

Barrera, Luis A.
论文数: 0 引用数: 0
h-index: 0
机构:
Pontificia Univ Javeriana, Fac Sci, Inst Study Inborn Errors Metab, Bogota, Colombia Pontificia Univ Javeriana, Fac Sci, Inst Study Inborn Errors Metab, Bogota, Colombia
[7]
Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome
[J].
Gil-da-Silva-Lopes, Vera Lucia
;
Tacla, Milena Atique
;
Sgardioli, Ilaria Cristina
;
Vieira, Tarsis Paiva
;
Monlleo, Isabella Lopes
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS,
2020, 184 (04)
:912-927

Gil-da-Silva-Lopes, Vera Lucia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Campinas Unicamp, Dept Med Genet & Genom Med, Fac Med Sci, Campinas, SP, Brazil Univ Campinas Unicamp, Dept Med Genet & Genom Med, Fac Med Sci, Campinas, SP, Brazil

Tacla, Milena Atique
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Campinas Unicamp, Dept Med Genet & Genom Med, Fac Med Sci, Campinas, SP, Brazil Univ Campinas Unicamp, Dept Med Genet & Genom Med, Fac Med Sci, Campinas, SP, Brazil

Sgardioli, Ilaria Cristina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Campinas Unicamp, Dept Med Genet & Genom Med, Fac Med Sci, Campinas, SP, Brazil Univ Campinas Unicamp, Dept Med Genet & Genom Med, Fac Med Sci, Campinas, SP, Brazil

Vieira, Tarsis Paiva
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Campinas Unicamp, Dept Med Genet & Genom Med, Fac Med Sci, Campinas, SP, Brazil Univ Campinas Unicamp, Dept Med Genet & Genom Med, Fac Med Sci, Campinas, SP, Brazil

Monlleo, Isabella Lopes
论文数: 0 引用数: 0
h-index: 0
机构:
Fed Univ Alagoas UFAL, Med Genet Sect, Univ Hosp, Fac Med,Clin Genet Serv, Maceio, Alagoas, Brazil Univ Campinas Unicamp, Dept Med Genet & Genom Med, Fac Med Sci, Campinas, SP, Brazil
[8]
Genetic analysis for carrier diagnosis in hemophilia A and B in the Mexican population: 25 years of experience
[J].
Gonzalez-Ramos, Isaura-Araceli
;
Mantilla-Capacho, Johanna-Milena
;
Luna-Zaizar, Hilda
;
Mundo-Ayala, Jessica-Noemi
;
Lara-Navarro, Irving-Jair
;
Ornelas-Ricardo, Diana
;
Gonzalez Alcazar, Jose-angel
;
Evangelista-Castro, Natalia
;
Jaloma-Cruz, Ana Rebeca
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS,
2020, 184 (04)
:939-954

Gonzalez-Ramos, Isaura-Araceli
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Autonoma Guadalajara, Dept Acad Ciencias Salud Especializantes, Zapopan, Jalisco, Mexico Univ Autonoma Guadalajara, Dept Acad Ciencias Salud Especializantes, Zapopan, Jalisco, Mexico

Mantilla-Capacho, Johanna-Milena
论文数: 0 引用数: 0
h-index: 0
机构:
Sistema Nacl Desarrollo Integral Familia SNDIF, Mexico City, DF, Mexico Univ Autonoma Guadalajara, Dept Acad Ciencias Salud Especializantes, Zapopan, Jalisco, Mexico

Luna-Zaizar, Hilda
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Guadalajara, Ctr Univ Ciencias Exactas & Ingn, Dept Quim, Guadalajara, Jalisco, Mexico Univ Autonoma Guadalajara, Dept Acad Ciencias Salud Especializantes, Zapopan, Jalisco, Mexico

Mundo-Ayala, Jessica-Noemi
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Americas Puebla, Dept Chem & Biol Sci, Cholula, Mexico Univ Autonoma Guadalajara, Dept Acad Ciencias Salud Especializantes, Zapopan, Jalisco, Mexico

Lara-Navarro, Irving-Jair
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Guadalajara, Ctr Univ Ciencias Salud, Genet Humana, Guadalajara, Jalisco, Mexico
Inst Mexicano Seguro Social, Ctr Invest Biomed Occidente, Div Genet, Sierra Mojada 800, Guadalajara 44340, Jalisco, Mexico Univ Autonoma Guadalajara, Dept Acad Ciencias Salud Especializantes, Zapopan, Jalisco, Mexico

Ornelas-Ricardo, Diana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Guadalajara, Ctr Univ Ciencias Salud, Genet Humana, Guadalajara, Jalisco, Mexico
Inst Mexicano Seguro Social, Ctr Invest Biomed Occidente, Div Genet, Sierra Mojada 800, Guadalajara 44340, Jalisco, Mexico Univ Autonoma Guadalajara, Dept Acad Ciencias Salud Especializantes, Zapopan, Jalisco, Mexico

Gonzalez Alcazar, Jose-angel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Guadalajara, Ctr Univ Ciencias Exactas & Ingn, Quim Farmaceut Biol QFB, Guadalajara, Jalisco, Mexico Univ Autonoma Guadalajara, Dept Acad Ciencias Salud Especializantes, Zapopan, Jalisco, Mexico

Evangelista-Castro, Natalia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Guadalajara, Ctr Univ Ciencias Exactas & Ingn, Quim Farmaceut Biol QFB, Guadalajara, Jalisco, Mexico Univ Autonoma Guadalajara, Dept Acad Ciencias Salud Especializantes, Zapopan, Jalisco, Mexico

Jaloma-Cruz, Ana Rebeca
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Mexicano Seguro Social, Ctr Invest Biomed Occidente, Div Genet, Sierra Mojada 800, Guadalajara 44340, Jalisco, Mexico Univ Autonoma Guadalajara, Dept Acad Ciencias Salud Especializantes, Zapopan, Jalisco, Mexico
[9]
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia
[J].
Lores, Juliana
;
Prada, Carlos E.
;
Ramirez-Montano, Diana
;
Nastasi-Catanese, Jose A.
;
Pachajoa, Harry
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS,
2020, 184 (04)
:1042-1051

Lores, Juliana
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Valle Lili, Dept Genet, Cali, Colombia
Univ Icesi, Ctr Invest Anomalias Congenitas & Enfermedades Ra, Cali, Colombia Fdn Valle Lili, Dept Genet, Cali, Colombia

Prada, Carlos E.
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA
Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA
Fdn Cardiovasc Colombia, Bucaramanga, Colombia Fdn Valle Lili, Dept Genet, Cali, Colombia

Ramirez-Montano, Diana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Icesi, Ctr Invest Anomalias Congenitas & Enfermedades Ra, Cali, Colombia Fdn Valle Lili, Dept Genet, Cali, Colombia

Nastasi-Catanese, Jose A.
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Valle Lili, Dept Genet, Cali, Colombia Fdn Valle Lili, Dept Genet, Cali, Colombia

Pachajoa, Harry
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Valle Lili, Dept Genet, Cali, Colombia
Univ Icesi, Ctr Invest Anomalias Congenitas & Enfermedades Ra, Cali, Colombia Fdn Valle Lili, Dept Genet, Cali, Colombia
[10]
Case report: Maternal tyrosinemia type 1a under NTBC treatment with tyrosine- and phenylalanine restricted diet in Chile
[J].
Medina, Maria F.
;
Arias, Carolina
;
Cabello, Juan F.
;
De la Parra, Alicia
;
Valiente, Alf
;
Castro, Gabriela
;
Fuenzalida, Karen
;
Cornejo, Veronica
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS,
2020, 184 (04)
:1009-1013

Medina, Maria F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chile, Fac Med, Santiago, Chile Univ Chile, Fac Med, Santiago, Chile

Arias, Carolina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chile, Genet & Metab Dis Lab, Inst Nutr & Food Technol INTA, Santiago, Chile Univ Chile, Fac Med, Santiago, Chile

Cabello, Juan F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chile, Genet & Metab Dis Lab, Inst Nutr & Food Technol INTA, Santiago, Chile Univ Chile, Fac Med, Santiago, Chile

De la Parra, Alicia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chile, Genet & Metab Dis Lab, Inst Nutr & Food Technol INTA, Santiago, Chile Univ Chile, Fac Med, Santiago, Chile

Valiente, Alf
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chile, Genet & Metab Dis Lab, Inst Nutr & Food Technol INTA, Santiago, Chile Univ Chile, Fac Med, Santiago, Chile

Castro, Gabriela
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chile, Genet & Metab Dis Lab, Inst Nutr & Food Technol INTA, Santiago, Chile Univ Chile, Fac Med, Santiago, Chile

Fuenzalida, Karen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chile, Genet & Metab Dis Lab, Inst Nutr & Food Technol INTA, Santiago, Chile Univ Chile, Fac Med, Santiago, Chile

Cornejo, Veronica
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chile, Genet & Metab Dis Lab, Inst Nutr & Food Technol INTA, Santiago, Chile Univ Chile, Fac Med, Santiago, Chile