Loreto Sampol-Martorell
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 11 publications
Lateralized overgrowth as a guiding sign of abdominal neoplasms for pediatric orthopedic surgeons.
Journal: Joint diseases and related surgery
Published: November 01, 2022
No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon.
Journal: Advances in laboratory medicine
Published: July 27, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Journal: Human mutation
Published: August 13, 2021
Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
Journal: Gastroenterologia y hepatologia
Published: April 21, 2021
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Journal: Human mutation
Published: May 20, 2019
Neonatal Marfan Syndrome: A Rare, Severe, and Life-Threatening Genetic Disease.
Journal: The Journal of pediatrics
Published: March 07, 2019
Pseudohypoaldosteronism types I and II: little more than a name in common.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: December 16, 2016
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Journal: European journal of human genetics : EJHG
Published: February 16, 2016
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening.
Journal: Pediatric blood & cancer
Published: November 25, 2014
Diagnosis and treatment of digitocutaneous dysplasia, a rare infantile digital fibromatosis: a case report.
Journal: Hand (New York, N.Y.)
Published: January 16, 2014
Hirschsprung's disease and medullary carcinoma of the thyroids: two diseases in a monogenetic disorder
Journal: Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
Published: November 02, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026