Results 111 to 120 of about 91,778 (159)

Adult-onset Bartter syndrome type IV B with ACTH secreting pituitary microadenoma. [PDF]

J Bras Nefrol
Mathew GG.
europepmc   +1 more source

Cyclophosphamide post-haploidentical stem cell transplantation experience in an infant with IPEX syndrome [PDF]

Biomedica
Medina D, Ariza-Insignares C, Restrepo A, Devia Á, Franco A, Lemus R, Olaya M, Milanés R, Pachajoa H.   +8 more
europepmc   +1 more source

Síndrome Rusell Silver. Presentación de caso

Revista Médica Electrónica
RESUMEN El síndrome Russell Silver es una enfermedad genética de baja frecuencia, caracterizada por retardo del crecimiento prenatal y postnatal, dismorfias faciales y digitales, así como asimetría corporal.
Elayne Esther Santana Hernández
doaj  

[Ring chromosome 21 syndrome: report of 2 cases]. [PDF]

Rev Med Inst Mex Seguro Soc
Guzmán-Santiago TA, Juárez-Melchor D, Jiménez-Pérez B, Vera-Loaiza A, Pérez-Arzola AA, Hernández-Castañeda Y, Rodríguez-Hurtado PO, Crisanto-López IE, Garduño-Zarazúa LM, Salazar-Bonilla W.   +9 more
europepmc   +1 more source

Cri du Chat Syndrome and congenital dislocation of the hips and knees: case report. [PDF]

Rev Fac Cien Med Univ Nac Cordoba
Graça NNJ, Ribeiro MLA, Duarte ML.
europepmc   +1 more source

[Clinical characterization in patients with neurocutaneous syndrome]. [PDF]

Rev Med Inst Mex Seguro Soc
Hernández-Castañeda Y, Juárez-Melchor D, Vera-Loaiza A, Pérez-Arzola AA, Crisanto-López IE, Rodríguez-Hurtado PO.   +5 more
europepmc   +1 more source

PRKAG2 Syndrome: Is Screening with Early Echocardiography Effective in Children with a Positive Genotype? [PDF]

Arq Bras Cardiol
Assunção MELSM, da Silva NLCL, Silva MPM.   +2 more
europepmc   +1 more source

An integrated approach for rare disease detection and classification in Spanish pediatric medical reports. [PDF]

Sci Rep
Duque A, Araujo L, Martinez-Romo J, Esteban-Vasallo MD, Domínguez-Berjón MF, Malillos Perez D.   +5 more
europepmc   +1 more source

[Autoimmune Regulatory Gene (AIRE) and Development of Autoimmune Thyroiditis in Down Syndrome]. [PDF]

Rev Med Inst Mex Seguro Soc
Moran-Espinosa MC, Granados-Riverón JT, Benítez-Arvizu G, Sosa-Delgado SM, Gómez-Mejía MA, Diaz-Garcia H.   +5 more
europepmc   +1 more source

[Characteristics of patients with drug-resistant epilepsy in a tertiary hospital]. [PDF]

Rev Neurol
Iglesias-Rodríguez M, Navarro-Abia V, Barbadillo-Mariscal B, Gil-Calderón FJ, Gonzalo-San Esteban A, Mañaricua-Arnaiz A, Tejero-Pastor L, Conejo-Moreno D.   +7 more
europepmc   +1 more source