M. Botella

发表

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

M. Bauer, U. Kölsch, R. Krüger, 2015, Journal of Clinical Immunology.

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

B. Gener, B. Rodríguez-Santiago, L. Pérez-Jurado, 2015, Molecular Autism.

Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi–Goutières Syndrome

Martin A. M. Reijns, L. Lagae, B. Gener, 2013, Human mutation.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

A. Vanderver, C. Bodemer, B. Gener, 2013, The Lancet Neurology.

MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

B. Gener, M. Botella, M. Tejada, 2013, The Journal of molecular diagnostics : JMD.

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

M. Bauer, U. Kölsch, R. Krüger, 2015, Journal of Clinical Immunology.

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

J. Crolla, A. Collins, B. Gener, 2012, European journal of medical genetics.

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

Detelina Grozeva, D. Grozeva, M. Botella, 2018, Front. Genet..

[Paraneoplastic opsoclonus myoclonus ataxia syndrome].

M. Botella, J. Montiano, S. Aguilera Albesa, 2009, Anales del sistema sanitario de Navarra.

[Generalized epileptic seizures in an infant due to passive exposure to cocaine].

M. Botella, S. Aguilera, J. Montiano, 2009, Anales del sistema sanitario de Navarra.

Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature

M. Botella, N. Shannon, P. Vasudevan, 2005, Clinical dysmorphology.

Further case of aminopterin syndrome sine aminopterin in a Spanish child.

M. Botella, S. García-Miñaúr, 2000, American journal of medical genetics.

A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism

M. Botella, M. Tejada, A. B. de la Hoz, 2018, Clinical genetics.