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American Journal of Medical Genetics. Part A|September 15, 2005
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndromeGermán Rodríguez-Criado, Luis Magano, Mabel Segovia, et al.
Medicina|April 29, 2024
[Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association]Santiago I Rossi, Silvia Baleani, Ximena Prado, et al.
Cells|November 27, 2021
Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial HypertensionNatalia Gallego, Alejandro Cruz-Utrilla, Inmaculada Guillén, et al.
Frontiers in Endocrinology|September 8, 2022
Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutationsMaite Santurtún, Eva Mediavilla-Martinez, Ana I Vega, et al.
Scientific Reports|September 16, 2020
Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patientsMauro Lago-Docampo, Jair Tenorio, Ignacio Hernández-González, et al.
American Journal of Medical Genetics. Part A|November 16, 2010
Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteriaVíctor Martínez-Glez, Valeria Romanelli, María A Mori, et al.
European Journal of Internal Medicine|January 20, 2016
Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adultsLeyre Riancho-Zarrabeitia, Mayte García-Unzueta, Jair A Tenorio, et al.
Molecular Genetics and Metabolism Reports|January 25, 2017
A new variant in PHKA2 is associated with glycogen storage disease type IXaCarmen Rodríguez-Jiménez, Fernando Santos-Simarro, Ángel Campos-Barros, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 10, 2023
Adult experiences in Beckwith-Wiedemann syndromeWilliam A Drust, Alessandro Mussa, Andrea Gazzin, et al.
Gene|March 26, 2013
A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disabilityLaia Rodríguez-Revenga, Elena Vallespín, Irene Madrigal, et al.
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