Chromosome disorders associated with mental retardation

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.

Molecular genetics and metabolism·2005

Newborn screening compared to clinical identification of biochemical genetic disorders.

Journal of inherited metabolic disease·2003

Efficacy and safety of lovastatin in adolescent males with heterozygous familial hypercholesterolemia: a randomized controlled trial.

JAMA·1999

The distribution of human C4 DNA variants in relation to major histocompatibility complex alleles and extended haplotypes.

Human immunology·1988

Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia.

American journal of medical genetics·1985

Dup(4p)del(9p) in a familial mental retardation syndrome. Resemblance to de Lange syndrome detected by high-resolution banding.

American journal of diseases of children (1960)·1985

Centering Lived Experience: Inclusive Pediatric Care for Children Who Are Deaf and Hard of Hearing and Their Families.

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Neurodiversity and Intellectual Disability: Opportunities and Challenges for Functioning and Participation Across the Life Course.

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Navigating Pediatric Urticaria: Diagnosis and Management for the Busy Pediatrician.

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Asymmetrical chromosomal utilization during zygotic genome activation.

Frontiers in bioinformatics·2026

DeepKaryo-Check: a two-stage automated screening framework for chromosomal numerical and structural abnormalities in clinical karyotype analysis.

Frontiers in cell and developmental biology·2026

Multiparametric analysis of sperm chromatin and ROS reveals the existence of subpopulations that are linked to embryo development after ICSI.

Scientific reports·2026

Repeat offenders: Satellite DNA sequence variation drives heterochromatin instability.

Science advances·2026

Nuclear Dynamics and Its Timing Regulation Revealed by Live-Cell Imaging.

Advances in experimental medicine and biology·2026

Oocyte Kinetochores at the Nexus of Meiotic Drive and Segregation Fidelity.

Advances in experimental medicine and biology·2026

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Chromosome disorders associated with mental retardation

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The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.

Newborn screening compared to clinical identification of biochemical genetic disorders.

Efficacy and safety of lovastatin in adolescent males with heterozygous familial hypercholesterolemia: a randomized controlled trial.

The distribution of human C4 DNA variants in relation to major histocompatibility complex alleles and extended haplotypes.

Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia.

Dup(4p)del(9p) in a familial mental retardation syndrome. Resemblance to de Lange syndrome detected by high-resolution banding.

Centering Lived Experience: Inclusive Pediatric Care for Children Who Are Deaf and Hard of Hearing and Their Families.

From Early Childhood to Adulthood: Implementing Neuroaffirming Health Care for Autistic Individuals.

Neurodivergence in Medical Education: Current Landscape and Inclusive Future for Pediatrics.

Neurodiversity and Intellectual Disability: Opportunities and Challenges for Functioning and Participation Across the Life Course.

Action for Access: Equity for Children With Disabilities in Lowand Middle-Income Countries.

Navigating Pediatric Urticaria: Diagnosis and Management for the Busy Pediatrician.

Asymmetrical chromosomal utilization during zygotic genome activation.

DeepKaryo-Check: a two-stage automated screening framework for chromosomal numerical and structural abnormalities in clinical karyotype analysis.

Multiparametric analysis of sperm chromatin and ROS reveals the existence of subpopulations that are linked to embryo development after ICSI.

Repeat offenders: Satellite DNA sequence variation drives heterochromatin instability.

Nuclear Dynamics and Its Timing Regulation Revealed by Live-Cell Imaging.

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Chromosome disorders associated with mental retardation

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