Molecular genetics of phenylketonuria and its implications

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

JIMD reports·2015

A psychosocial model of a medical problem: Maternal phenylketonuria.

The journal of primary prevention·2013

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

JIMD reports·2013

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Journal of human genetics·2009

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Molecular genetics and metabolism·2008

Maternal histidinaemia: pregnancies and offspring outcomes.

Journal of inherited metabolic disease·2004

The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies.

American journal of human genetics·2026

Shared inheritance reveals landscape of somatic and germline cancer risk in TP53.

American journal of human genetics·2026

Examining gaps in institutional policies for clinical genomic data sharing: A cross-jurisdictional study.

American journal of human genetics·2026

Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa.

American journal of human genetics·2026

Systematic and proactive evaluation of AIRE missense variant effects.

American journal of human genetics·2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

American journal of human genetics·2026

Molecular characterization of a rare norovirus GII.8[P8] strain detected during pediatric acute gastroenteritis surveillance in Harbin, China.

Virus genes·2026

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

American journal of medical genetics. Part A·2026

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants: A Case Report.

Neurology. Genetics·2026

Unmasked Behavioral Disturbance Following Traumatic Brain Injury in an Adult With Previously Undiagnosed Sotos Syndrome.

Cureus·2026

Genetic profile of motor neuron disease in a multiregional Brazilian cohort: an 18-year real-world experience in 1,911 patients.

Frontiers in neurology·2026

Distinct neurogenic progenitor cell populations balance cell type production in the embryonic mouse retina.

bioRxiv : the preprint server for biology·2026

Related Experiment Videos

Molecular genetics of phenylketonuria and its implications

Related Concept Videos

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

A psychosocial model of a medical problem: Maternal phenylketonuria.

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Maternal histidinaemia: pregnancies and offspring outcomes.

The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies.

Shared inheritance reveals landscape of somatic and germline cancer risk in TP53.

Examining gaps in institutional policies for clinical genomic data sharing: A cross-jurisdictional study.

Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa.

Systematic and proactive evaluation of AIRE missense variant effects.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Molecular characterization of a rare norovirus GII.8[P8] strain detected during pediatric acute gastroenteritis surveillance in Harbin, China.

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants: A Case Report.

Unmasked Behavioral Disturbance Following Traumatic Brain Injury in an Adult With Previously Undiagnosed Sotos Syndrome.

Genetic profile of motor neuron disease in a multiregional Brazilian cohort: an 18-year real-world experience in 1,911 patients.

Distinct neurogenic progenitor cell populations balance cell type production in the embryonic mouse retina.

Related Experiment Videos

Molecular genetics of phenylketonuria and its implications

Related Concept Videos

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