Lack of significant association between spina bifida and the fragile X syndrome

Genome-wide differential expression of synaptic long noncoding RNAs in autism spectrum disorder.

Translational psychiatry·2015

Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.

Journal of genetic counseling·2013

Alterations in mitochondrial DNA copy number and the activities of electron transport chain complexes and pyruvate dehydrogenase in the frontal cortex from subjects with autism.

Translational psychiatry·2013

Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate.

JIMD reports·2013

Quantitative 3D evaluation of step ascent and descent in individuals with Down syndrome--analysis of a daily challenging task.

Journal of intellectual disability research : JIDR·2012

Upregulation of Ras/Raf/ERK1/2 signaling and ERK5 in the brain of autistic subjects.

Genes, brain, and behavior·2011

Defects of blastogenesis.

American journal of medical genetics·2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002

Three cases of tetrasomy 9p.

American journal of medical genetics·2002

Identification of the Novel HLA-G*01:01:39 Allele Using PolyseqOne Sequencing.

HLA·2026

Identification and Characterisation of a Novel HLA-DPB1*1985:01 Allele by Long-Read Sequencing.

HLA·2026

Splenomegaly With Thrombocytopenia: A Case of the Rare and Obvious.

Journal of pediatric hematology/oncology·2026

Characterisation of the Novel HLA-DPB1*1933:01 Allele by Sequencing-Based Typing.

HLA·2026

Characterisation of the Novel HLA-B*27:313 Allele by Sequencing-Based Typing.

HLA·2026

Humoral Immune Variability in Twin Sisters With SKIV2L-Associated Trichohepatoenteric Syndrome.

Cureus·2026

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Lack of significant association between spina bifida and the fragile X syndrome

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Genome-wide differential expression of synaptic long noncoding RNAs in autism spectrum disorder.

Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.

Alterations in mitochondrial DNA copy number and the activities of electron transport chain complexes and pyruvate dehydrogenase in the frontal cortex from subjects with autism.

Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate.

Quantitative 3D evaluation of step ascent and descent in individuals with Down syndrome--analysis of a daily challenging task.

Upregulation of Ras/Raf/ERK1/2 signaling and ERK5 in the brain of autistic subjects.

Defects of blastogenesis.

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

Limb anomalies: Developmental and evolutionary aspects.

Molecular etiology of gut malformations and diseases.

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

Three cases of tetrasomy 9p.

Identification of the Novel HLA-G*01:01:39 Allele Using PolyseqOne Sequencing.

Identification and Characterisation of a Novel HLA-DPB1*1985:01 Allele by Long-Read Sequencing.

Splenomegaly With Thrombocytopenia: A Case of the Rare and Obvious.

Characterisation of the Novel HLA-DPB1*1933:01 Allele by Sequencing-Based Typing.

Characterisation of the Novel HLA-B*27:313 Allele by Sequencing-Based Typing.

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Lack of significant association between spina bifida and the fragile X syndrome

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