Refined gene localization for the Miles-Carpenter syndrome (MCS)

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

Clinical epigenetics·2021

Behavioral inhibition in childhood predicts smaller hippocampal volume in adolescent offspring of parents with panic disorder.

Translational psychiatry·2015

Association between pupillary light reflex and sensory behaviors in children with autism spectrum disorders.

Research in developmental disabilities·2014

The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome.

Clinical genetics·2014

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

Clinical genetics·2014

The two sides of pseudo-bulbar disorder in multiple sclerosis: Comparing one patient's experience with a review of the neurologic literature.

NeuroRehabilitation·2014

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

Lessons from a systematic review of family-based studies in ALS.

Amyotrophic lateral sclerosis & frontotemporal degeneration·2026

Spadmiss with basal ganglia calcification and multilocus genetic disease: a novel phenotypic expansion.

Annals of medicine and surgery (2012)·2026

Genome-wide meta-analysis with 1,590,596 individuals identifies 12 novel risk loci for systemic lupus erythematosus.

Mammalian genome : official journal of the International Mammalian Genome Society·2026

Biology-informed neural networks learn nonlinear representations from omics data to improve genomic prediction and biological discovery.

The Plant journal : for cell and molecular biology·2026

The causal role of plasma protein ratios in ulcerative colitis: insights from mendelian randomization and single-cell sequencing.

Open medicine (Warsaw, Poland)·2026

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.

Human mutation·2026

Related Experiment Videos

Refined gene localization for the Miles-Carpenter syndrome (MCS)

Related Concept Videos

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

Behavioral inhibition in childhood predicts smaller hippocampal volume in adolescent offspring of parents with panic disorder.

Association between pupillary light reflex and sensory behaviors in children with autism spectrum disorders.

The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome.

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

The two sides of pseudo-bulbar disorder in multiple sclerosis: Comparing one patient's experience with a review of the neurologic literature.

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.

Lessons from a systematic review of family-based studies in ALS.

Spadmiss with basal ganglia calcification and multilocus genetic disease: a novel phenotypic expansion.

Genome-wide meta-analysis with 1,590,596 individuals identifies 12 novel risk loci for systemic lupus erythematosus.

Biology-informed neural networks learn nonlinear representations from omics data to improve genomic prediction and biological discovery.

The causal role of plasma protein ratios in ulcerative colitis: insights from mendelian randomization and single-cell sequencing.

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.

Related Experiment Videos

Refined gene localization for the Miles-Carpenter syndrome (MCS)

Related Concept Videos

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