Accueil
R Badilla-Porras
R Badilla-Porras
Affiliations
Clinical Genetic and Metabolism Department, National Children's Hospital, CCSS, San José, Costa Rica.
Publications (5)
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Orphanet journal of rare diseases
Avec:
A Echeverri-McCandless
,
J M Weimer
,
A Ulate-Campos
,
A Soto-Rodríguez
,
A Gutiérrez-Mata
,
L Hernández-Con
,
S Bogantes-Ledezma
,
A Balmaceda-Meza
,
J Brudvig
,
A Sanabria-Castro
Multiple endocrine neoplasia type 1 familial case in a patient with insulinoma and primary hyperparathyroidism: First report in literature and in the Costa Rican population of the c.1224_1225insGTCC pathogenic variant.
Clinical case reports
Avec:
Paula Molina-Céspedes
,
Ernesto José Ruiz-Golcher
,
Oscar Badilla-Barboza
,
Giovanni Sedó-Mejía
,
Laura Barboza-Rodríguez
,
Ramsés Badilla-Porras
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.
JIMD reports
Avec:
Monica Penon-Portmann
,
Stephanie Lotz-Esquivel
,
Alejandra Chavez Carrera
,
Mildred Jiménez-Hernández
,
Danny Alvarado-Romero
,
Sharon Segura-Cordero
,
Fiorella Rimolo-Donadio
,
Francisco Hevia-Urrutia
,
Alfredo Mora-Guevara
,
Manuel Saborío-Rocafort
,
Gabriela Jiménez-Arguedas
,
Ramsés Badilla-Porras
Rubinstein-Taybi syndrome in diverse populations.
American journal of medical genetics. Part A
Avec:
Cedrik Tekendo-Ngongang
,
Babajide Owosela
,
Nicole Fleischer
,
Yonit A Addissie
,
Bryan Malonga
,
Ebenezer Badoe
,
Neerja Gupta
,
Angélica Moresco
,
Victoria Huckstadt
,
Engy A Ashaat
,
Dalia Farouk Hussen
,
Ho-Ming Luk
,
Ivan F M Lo
,
Brian Hon-Yin Chung
,
Jasmine L F Fung
,
Danilo Moretti-Ferreira
,
Letícia Cassimiro Batista
,
Stephanie Lotz-Esquivel
,
Manuel Saborio-Rocafort
,
Ramses Badilla-Porras
,
Monica Penon Portmann
,
Kelly L Jones
,
Omar A Abdul-Rahman
,
Annette Uwineza
,
Eloise J Prijoles
,
Ifeanyi Kanayo Ifeorah
,
Arianne Llamos Paneque
,
Nirmala D Sirisena
,
Leah Dowsett
,
Sansan Lee
,
Gerarda Cappuccio
,
Carolyn Sian Kitchin
,
Alicia Diaz-Kuan
,
Meow-Keong Thong
,
María Gabriela Obregon
,
Leon Mutesa
,
Vajira H W Dissanayake
,
Mona O El Ruby
,
Nicola Brunetti-Pierri
,
Ekanem Nsikak Ekure
,
Roger E Stevenson
,
Maximilian Muenke
,
Paul Kruszka
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.
Journal of thrombosis and haemostasis : JTH
Avec:
Monica Penon-Portmann
,
Sarah K Westbury
,
Ling Li
,
Fred G Pluthero
,
Richard J Y Liu
,
Helen H Y Yao
,
Ryan S Q Geng
,
Neil Warner
,
Aleixo M Muise
,
Stephanie Lotz-Esquivel
,
Marianela Howell-Ramirez
,
Pablo Saborío-Chacon
,
Sara Fernández-Rojas
,
Manuel Saborio-Rocafort
,
Mildred Jiménez-Hernández
,
Carolina Wang-Zuniga
,
Walter Cartín-Sánchez
,
Joseph T Shieh
,
Ramses Badilla-Porras
,
Walter H A Kahr
Réseau de co-auteurs
Stephanie Lotz-Esquivel
3 collaborations
Ramsés Badilla-Porras
2 collaborations
Monica Penon-Portmann
2 collaborations
Mildred Jiménez-Hernández
2 collaborations
Manuel Saborio-Rocafort
2 collaborations
Ramses Badilla-Porras
2 collaborations
A Echeverri-McCandless
1 collaboration
J M Weimer
1 collaboration
A Ulate-Campos
1 collaboration
A Soto-Rodríguez
1 collaboration
A Gutiérrez-Mata
1 collaboration
L Hernández-Con
1 collaboration
S Bogantes-Ledezma
1 collaboration
A Balmaceda-Meza
1 collaboration
J Brudvig
1 collaboration
A Sanabria-Castro
1 collaboration
Paula Molina-Céspedes
1 collaboration
Ernesto José Ruiz-Golcher
1 collaboration
Oscar Badilla-Barboza
1 collaboration
Giovanni Sedó-Mejía
1 collaboration
Laura Barboza-Rodríguez
1 collaboration
Alejandra Chavez Carrera
1 collaboration
Danny Alvarado-Romero
1 collaboration
Sharon Segura-Cordero
1 collaboration
Fiorella Rimolo-Donadio
1 collaboration
Francisco Hevia-Urrutia
1 collaboration
Alfredo Mora-Guevara
1 collaboration
Manuel Saborío-Rocafort
1 collaboration
Gabriela Jiménez-Arguedas
1 collaboration
Cedrik Tekendo-Ngongang
1 collaboration
Babajide Owosela
1 collaboration
Nicole Fleischer
1 collaboration
Yonit A Addissie
1 collaboration
Bryan Malonga
1 collaboration
Ebenezer Badoe
1 collaboration
Neerja Gupta
1 collaboration
Angélica Moresco
1 collaboration
Victoria Huckstadt
1 collaboration
Engy A Ashaat
1 collaboration
Dalia Farouk Hussen
1 collaboration
Ho-Ming Luk
1 collaboration
Ivan F M Lo
1 collaboration
Brian Hon-Yin Chung
1 collaboration
Jasmine L F Fung
1 collaboration
Danilo Moretti-Ferreira
1 collaboration
Letícia Cassimiro Batista
1 collaboration
Monica Penon Portmann
1 collaboration
Kelly L Jones
1 collaboration
Omar A Abdul-Rahman
1 collaboration
Annette Uwineza
1 collaboration
Eloise J Prijoles
1 collaboration
Ifeanyi Kanayo Ifeorah
1 collaboration
Arianne Llamos Paneque
1 collaboration
Nirmala D Sirisena
1 collaboration
Leah Dowsett
1 collaboration
Sansan Lee
1 collaboration
Gerarda Cappuccio
1 collaboration
Carolyn Sian Kitchin
1 collaboration
Alicia Diaz-Kuan
1 collaboration
Meow-Keong Thong
1 collaboration
María Gabriela Obregon
1 collaboration
Leon Mutesa
1 collaboration
Vajira H W Dissanayake
1 collaboration
Mona O El Ruby
1 collaboration
Nicola Brunetti-Pierri
1 collaboration
Ekanem Nsikak Ekure
1 collaboration
Roger E Stevenson
1 collaboration
Maximilian Muenke
1 collaboration
Paul Kruszka
1 collaboration
Sarah K Westbury
1 collaboration
Ling Li
1 collaboration
Fred G Pluthero
1 collaboration
Richard J Y Liu
1 collaboration
Helen H Y Yao
1 collaboration
Ryan S Q Geng
1 collaboration
Neil Warner
1 collaboration
Aleixo M Muise
1 collaboration
Marianela Howell-Ramirez
1 collaboration
Pablo Saborío-Chacon
1 collaboration
Sara Fernández-Rojas
1 collaboration
Carolina Wang-Zuniga
1 collaboration
Walter Cartín-Sánchez
1 collaboration
Joseph T Shieh
1 collaboration
Walter H A Kahr
1 collaboration