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American Journal of Human Genetics|June 4, 2019
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca<sup>2+</sup>-Activated K<sup>+</sup> Channel SK3 Cause Zimmermann-Laband SyndromeChristiane K Bauer, Pauline E Schneeberger, Fanny Kortüm, et al.BMC Medical Genetics|November 1, 2014
Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrierAlicia Delicado, Luis Fernández, María Luisa de Torres, et al.Genes|April 28, 2023
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary HospitalAna Karen Sandoval-Talamantes, María Ángeles Mori, Fernando Santos-Simarro, et al.Current Issues in Molecular Biology|January 20, 2023
<i>OPA1</i> Dominant Optic Atrophy: Diagnostic Approach in the Pediatric PopulationNatalia Arruti, Patricia Rodríguez-Solana, María Nieves-Moreno, et al.Anales De Pediatria|November 7, 2025
Rapid genome sequencing in neonatal and pediatric intensive care units. Evidence and current situationMarta Pacio Miguez, Sixto García-Miñaúr, Ángela Del Pozo, et al.Molecular Genetics & Genomic Medicine|March 18, 2021
Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndromeFe Amalia García-Santiago, Cristina Martínez-Payo, Elena Mansilla, et al.Human Mutation|July 22, 2017
FGF9 mutation causes craniosynostosis along with multiple synostosesMaria Rodriguez-Zabala, Miriam Aza-Carmona, Carlos I Rivera-Pedroza, et al.Molecular Genetics & Genomic Medicine|October 1, 2019
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patientsVirginia Pérez-Grijalba, Alberto García-Oguiza, María López, et al.Journal of Clinical Medicine|August 12, 2023
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone TreatmentAtilano Carcavilla, Ana Cambra, José L Santomé, et al.Anales De Pediatria|November 8, 2022
Achondroplasia: Update on diagnosis, follow-up and treatmentAntonio Leiva-Gea, María F Martos Lirio, Ana Coral Barreda Bonis, et al.Pageof 9