Results 141 to 150 of about 5,675 (201)

First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser) [PDF]

Biomedica
Cerón SM, Pérez DA, Montaño JH, Acosta MA.   +3 more
europepmc   +1 more source

[Doctor, I have a lump on the palate]. [PDF]

Aten Primaria
Mozo Puebla MÁ, Morales Puebla JM.
europepmc   +1 more source

Second part. [PDF]

Biomedica
Zea-Vera AF, Fernandes-Pineda M.
europepmc   +1 more source

El enigmático cromosoma de los Dinoflagelados

, 2003
Trabajo presentado en el III Seminario de Citogenética, celebrado en Granada (España) del 30 de Junio al 3 de Julio de 2003.
openaire   +1 more source

[Dilated cardiomyopathy and conduction disorder due to <i>TNNI3K</i> mutation]. [PDF]

Arch Cardiol Mex
Gayán-Ordás J, Valverde-Gómez M, Bascompte-Claret R, Sánchez-Flores M, López-Ortega R, Pablo-Ochoa J.   +5 more
europepmc   +1 more source

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

[Diaphragmatic Paralysis in Parsonage-Turner syndrome: beyond brachial neuralgia] [PDF]

Rev Fac Cien Med Univ Nac Cordoba
Zelaya de Leon N, Perri M, Almeida Souto M, Borsini E.   +3 more
europepmc   +1 more source

[Hepatic encephalopathy from cholangitis in a young patient with ornithine transcarbamylase mutation]. [PDF]

Rev Med Inst Mex Seguro Soc
Rojas-Salazar YL, Gómez-Montañez E, Rojas-Salazar JG.   +2 more
europepmc   +1 more source

[Right-sided acute appendicitis in situs inversus totalis. Case report]. [PDF]

Rev Med Inst Mex Seguro Soc
Núñez-Vázquez EJ, González-Lozano IA, López-Flores E, Segura-Buenrostro JE, Carvajal NR.   +4 more
europepmc   +1 more source

[Neurodevelopmental and Movement Disorder Due to a Mutation in the GNAO1 Gene: A Case Report]. [PDF]

Rev Neurol
Hernández Yeneris SM, González-Solano MA, Lince-Rivera I, Rojas-Martínez JA, Ramón-Gómez JL.   +4 more
europepmc   +1 more source