Results 71 to 80 of about 534 (156)

[Surgical approaches to petroclival meningiomas Part 2: narrative review of what we learned with 30 cases]. [PDF]

Surg Neurol Int, 2022
Isolan GR, Lavinsky J, Marques VMO, Monteiro JM, Dos Santos RS, de Aguiar PHP.   +5 more
europepmc   +1 more source

[Copy number variation and parental consanguinity elevated in newborns of high altitude with major congenital anomalies in Perú]. [PDF]

Rev Fac Cien Med Univ Nac Cordoba, 2022
Abarca Barriga HH, Chavesta Velásquez F, Barletta Carrillo C, Paucarmayta Tacuri A, Bazán Hurtado M, Vásquez Loarte T, Ordoñez Rondón L, Ordoñez Linares M, Rondón Abuhadba EA.   +8 more
europepmc   +1 more source

Incontinencia pigmenti. Presentación de caso.

Acta Médica del Centro
Introducción: La incontinencia pigmenti es una enfermedad genética neurocutánea de baja frecuencia con expresividad variable y un patrón de herencia dominante ligada al cromosoma X, presentándose casi exclusivamente en féminas, considerándose un gen ...
Elayne Esther Santana Hernández
doaj  

[Two new cases of X-linked intellectual developmental disorder-105 linked to a previously unreported pathogenic variant in the USP27X gene]. [PDF]

Rev Neurol
María Dolores-Sánchez C, Doval-Calvo D, Ballesta-Martínez MJ, Sánchez-Soler MJ.   +3 more
europepmc   +1 more source

Fragile X Syndrome in children. [PDF]

Colomb Med (Cali), 2023
Acero-Garcés DO, Saldarriaga W, Cabal-Herrera AM, Rojas CA, Hagerman RJ.   +4 more
europepmc   +1 more source

[The stratification of information by gender in COVID-19: an important link in the identification of risks]. [PDF]

Gac Sanit, 2022
Meléndez K, Vilcarromero A, Pillaca-Pullo O.   +2 more
europepmc   +1 more source

Grandes rearreglos del cromosoma X : el modelo de hemofilia

, 2016
Fil: Abelleyro, Miguel Martín.
openaire   +2 more sources

Adult-onset cerebral X-linked adrenoleukodystrophy presenting with frontal lobe syndrome caused by a de novo <i>ABCD1</i> gene mutation (c.1415_1416delAG, p.Gln472fs*83). [PDF]

Neurol Perspect
Ghosh R, León-Ruiz M, Jana A, Dubey S, Benito-León J.   +4 more
europepmc   +1 more source

[Coffin-Lowry syndrome: Case report in Mexico]. [PDF]

Rev Med Inst Mex Seguro Soc
Pérez-Peña AK, Juárez-Melchor D, Hernández-Castañeda Y.   +2 more
europepmc   +1 more source

Importance of determining variations in the number of copies in newborns with autosomal aneuploidies [PDF]

Biomedica, 2021
Abarca H, Trubnykova M, Chavesta F, Ordóñez M, Rondón E.   +4 more
europepmc   +1 more source