Differentiation of congenital hypertrichosis from Ambras syndrome

[Asymptomatic carnitine depletion on ketogenic diet in patients with pharmacoresistant epilepsies].

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Abilities and needs of children with genetic syndromes.

Genetic counseling (Geneva, Switzerland)·2006

Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome.

Genetic counseling (Geneva, Switzerland)·2005

[The ketogenic diet in German-speaking countries: update 2003].

Klinische Padiatrie·2004

Glucose monitoring with long-term subcutaneous microdialysis in neonates.

Pediatrics·2001

Determination of amino acid tissue concentrations by microdialysis: method evaluation and relation to plasma values.

Amino acids·2001

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

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

Clinical genetics·2026

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

Clinical genetics·2026

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

Clinical genetics·2026

Loss of SUMOylation drives aberrant PRC1 clustering and 3D genome rewiring independent of H3K27me3.

Nucleic acids research·2026

Hyponatremia as the Initial Presentation of Rathke's Cleft Cyst-Related Hypopituitarism.

Cureus·2026

Crystal structure of seladelpar, C21H23F3O5S, from synchrotron powder diffraction data and density functional theory.

Acta crystallographica. Section E, Crystallographic communications·2026

A Biophysical Hypothesis for Compartment-Specific Conformational States of the IQSEC2 Intrinsically Disordered Protein.

Biophysical journal·2026

Circular RNAs as central regulators of RNA stability.

Trends in genetics : TIG·2026

Association between circadian syndrome and frailty progression among middle-aged and older adults in China: A longitudinal study based on CHARLS.

Experimental gerontology·2026

Related Experiment Videos

Differentiation of congenital hypertrichosis from Ambras syndrome

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[Asymptomatic carnitine depletion on ketogenic diet in patients with pharmacoresistant epilepsies].

Abilities and needs of children with genetic syndromes.

Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome.

[The ketogenic diet in German-speaking countries: update 2003].

Glucose monitoring with long-term subcutaneous microdialysis in neonates.

Determination of amino acid tissue concentrations by microdialysis: method evaluation and relation to plasma values.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

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.

Loss of SUMOylation drives aberrant PRC1 clustering and 3D genome rewiring independent of H3K27me3.

Hyponatremia as the Initial Presentation of Rathke's Cleft Cyst-Related Hypopituitarism.

Crystal structure of seladelpar, C21H23F3O5S, from synchrotron powder diffraction data and density functional theory.

A Biophysical Hypothesis for Compartment-Specific Conformational States of the IQSEC2 Intrinsically Disordered Protein.

Circular RNAs as central regulators of RNA stability.

Association between circadian syndrome and frailty progression among middle-aged and older adults in China: A longitudinal study based on CHARLS.

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Differentiation of congenital hypertrichosis from Ambras syndrome

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