Cherchez les femmes (or the personal touch in the laboratory)

Apparent prevention of neural tube defects by periconceptional vitamin supplementation. 1981.

International journal of epidemiology·2011

A 46,XX fetus with external female and internal male genitalia, facial dysmorphic features and mildly dilated lateral ventricles of the brain: a new syndrome?

Clinical dysmorphology·2001

Physical and transcript map of the dominant optic atrophy (OPA1) gene critical region at 3q28-q29.

Genomics·2001

Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.

Genomics·1999

Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies.

Ophthalmology·1999

Altered smooth muscle development and innervation in the lower genitourinary and gastrointestinal tract of the male human fetus with myelomeningocele.

The Journal of urology·1998

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Journal of medical genetics·2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal of medical genetics·2026

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Accuracy of angioboost software versus routine angiography for assessing the degree of coronary artery lesion occlusion.

Caspian journal of internal medicine·2026

Analysis of characteristic flavor compounds in coffee peels subjected to different thermal processing treatments based on GC-IMS and HS-SPME-GC-MS combined with chemical pattern recognition.

Food chemistry: X·2026

Analytical validation and clinical performance of a chemiluminescence immunoassay panel for plasma biomarkers in Alzheimer's disease: a preliminary study.

Clinica chimica acta; international journal of clinical chemistry·2026

Colorimetric-catalytic-fluorescence triple-mode lateral flow immunoassay based on Au@PtPd NPs for sensitive detection of capsaicinoids: Evaluation of edible oil and chili quality.

Talanta·2026

A frozen-suspension external calibration strategy for quantitative imaging of Ce in fresh animal soft tissues by CLA-ICP-MS.

Talanta·2026

FOCUS-ischemia: A real-world comparison of an ischemia-focused analytical strategy and conventional multiparametric stress CMR.

International journal of cardiology. Heart & vasculature·2026

Related Experiment Videos

Cherchez les femmes (or the personal touch in the laboratory)

Related Concept Videos

Apparent prevention of neural tube defects by periconceptional vitamin supplementation. 1981.

A 46,XX fetus with external female and internal male genitalia, facial dysmorphic features and mildly dilated lateral ventricles of the brain: a new syndrome?

Physical and transcript map of the dominant optic atrophy (OPA1) gene critical region at 3q28-q29.

Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.

Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies.

Altered smooth muscle development and innervation in the lower genitourinary and gastrointestinal tract of the male human fetus with myelomeningocele.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Accuracy of angioboost software versus routine angiography for assessing the degree of coronary artery lesion occlusion.

Analysis of characteristic flavor compounds in coffee peels subjected to different thermal processing treatments based on GC-IMS and HS-SPME-GC-MS combined with chemical pattern recognition.

Analytical validation and clinical performance of a chemiluminescence immunoassay panel for plasma biomarkers in Alzheimer's disease: a preliminary study.

Colorimetric-catalytic-fluorescence triple-mode lateral flow immunoassay based on Au@PtPd NPs for sensitive detection of capsaicinoids: Evaluation of edible oil and chili quality.

A frozen-suspension external calibration strategy for quantitative imaging of Ce in fresh animal soft tissues by CLA-ICP-MS.

FOCUS-ischemia: A real-world comparison of an ischemia-focused analytical strategy and conventional multiparametric stress CMR.

Related Experiment Videos

Cherchez les femmes (or the personal touch in the laboratory)

Related Concept Videos

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