A non-enzymatic method for identification of citrullinemia heterozygotes

Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.

Calcified tissue international·2009

Evidence for nontermination of rotational bands in 74Kr.

Physical review letters·2005

Observation of proton radioactivity of the (21+) high-spin isomer in 94Ag.

Physical review letters·2005

Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.

European journal of pediatrics·1999

Newborn screening for hyperphenylalaninemia on day 5: is 240 mumol/liter the most appropriate cut-off level?

Preventive medicine·1990

[The phenylalanine stress test in the classification of patients with phenylketonuria].

Klinische Padiatrie·1989

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

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Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

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Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

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Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Clinical genetics·2026

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Clinical genetics·2026

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Clinical genetics·2026

Advances in prime editing: Molecular innovations, Large-fragment engineering, and AI-driven design.

Biodesign research·2026

Antisense oligonucleotide selection scheme for rare Duchenne muscular dystrophy mutations: Application to DMD exon 16 skipping.

Molecular therapy. Nucleic acids·2026

Split intron-exon system for circular RNA synthesis.

Nature communications·2026

Hepatic reprogramming occurs in a time-independent manner via an initial asymmetric division and continued mitotic activity.

Stem cell reports·2026

Hydrogen flux and microbial interactions governing methane formation in the rumen: Implications for mitigation.

The Science of the total environment·2026

Nonviral delivery of chemically modified tRNA rescues nonsense mutations in cystic fibrosis.

Science (New York, N.Y.)·2026

Related Experiment Videos

A non-enzymatic method for identification of citrullinemia heterozygotes

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Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.

Evidence for nontermination of rotational bands in 74Kr.

Observation of proton radioactivity of the (21+) high-spin isomer in 94Ag.

Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997.

Newborn screening for hyperphenylalaninemia on day 5: is 240 mumol/liter the most appropriate cut-off level?

[The phenylalanine stress test in the classification of patients with phenylketonuria].

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Advances in prime editing: Molecular innovations, Large-fragment engineering, and AI-driven design.

Antisense oligonucleotide selection scheme for rare Duchenne muscular dystrophy mutations: Application to DMD exon 16 skipping.

Split intron-exon system for circular RNA synthesis.

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A non-enzymatic method for identification of citrullinemia heterozygotes

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