F. Rodríguez

发表

RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis

F. Cassorla, F. Rodríguez, D. Ponce, 2019, American journal of medical genetics. Part A.

Copy number variants of Ras/MAPK pathway genes in patients with isolated cryptorchidism

F. Cassorla, N. Unanue, K. Heath, 2017, Andrology.

Replenishment of type VII collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive dystrophic epidermolysis bullosa.

S. González, S. Kramer, P. Conget, 2010, Cytotherapy.

Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome

F. Cassorla, N. Unanue, M. I. Hernández, 2014, Journal of pediatric endocrinology & metabolism : JPEM.

A Case of a Cutaneous Angiosarcoma that Demonstrated a Late but Comprehensive Response to Treatment

F. Rodríguez, S. Donís, F. Oton, 2016 .

Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function

V. Mericq, F. Cassorla, D. Martinez, 2017, Human reproduction.

Study of Ras/MAPK pathway gene variants in Chilean patients with Cryptorchidism

F. Cassorla, N. Unanue, F. Rodríguez, 2018, Andrology.

Noonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha-2a therapy: Case report.

F. Rodríguez, L. Castellon, E. Páez, 2020, Birth defects research.

Differential methylation pattern in pubertal girls associated with biochemical premature adrenarche

Alexandra M. Binder, V. Mericq, G. Iñiguez, 2023, Epigenetics.

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.

J. McGrath, S. González, P. Conget, 2012, Journal of dermatological science.

Etiology and Treatment of Growth Delay in Noonan Syndrome

F. Cassorla, F. Rodríguez, X. Gaete, 2021, Frontiers in Endocrinology.

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis

F. Cassorla, N. Unanue, M. I. Hernández, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

CAG and GGN repeat polymorphisms in the androgen receptor gene of a Chilean pediatric cohort with idiopathic inguinal cryptorchidism.

F. Cassorla, F. Rodríguez, A. Castro, 2023, Andrology.

De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome

G. Repetto, F. Palisson, F. Rodríguez, 2012, International journal of dermatology.

Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant

F. Cassorla, N. Unanue, V. Bolanos-Garcia, 2018, Journal of Pediatric Genetics.