Diagnosis of Niemann-Pick disease type C on chorionic villus cells

[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].

La Revue de medecine interne·2016

Aneuploidy: the impact of chromosome imbalance on nuclear organization and overall genome expression.

Clinical genetics·2016

Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.

Clinical genetics·2013

Infrared Spectroscopic Imaging of the Biochemical Modifications Induced in the Cerebellum of the Niemann-Pick type C Mouse.

Journal of biomedical optics·2012

Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome.

Human reproduction (Oxford, England)·2011

Is rapid aneuploidy screening used alone acceptable in prenatal diagnosis? An evaluation of the possible role of ultrasound examination.

Fetal diagnosis and therapy·2009

Most-favoured-nation pricing for prescription drugs in US Medicare: a cohort study.

Lancet (London, England)·2026

Immunogenicity of fractional one-fifth and one-half doses of 17DD yellow fever vaccine compared with full dose in children aged 9-23 months in Uganda: a phase 4, single-blind, randomised clinical trial.

Lancet (London, England)·2026

Efficacy and safety of mitapivat in adults with transfusion-dependent α-thalassaemia or β-thalassaemia (ENERGIZE-T): a double-blind, randomised, multicentre, placebo-controlled, phase 3 trial.

Lancet (London, England)·2026

Perioperative durvalumab plus fluorouracil, leucovorin, oxaliplatin, and docetaxel for resectable gastric and gastro-oesophageal junction adenocarcinoma (MATTERHORN): final results of overall survival and event-free survival by pathological response in a global, randomised, double-blind, placebo-controlled, multicentre, phase 3 trial.

Lancet (London, England)·2026

How power shapes judgments of culpability: Shield or liability?

Journal of personality and social psychology·2026

Psychological Predictors of Bystander Reactions to the Abuse of Animals and Humans.

Scandinavian journal of psychology·2026

"Yeah, it's biased, but … ": Recognition versus moral condemnation of bias across party lines.

Journal of personality and social psychology·2026

Associations Between Emotion Regulation, Callous-Unemotional Traits, and Bullying in Middle Childhood.

Journal of interpersonal violence·2026

The Critical Role of Empathy Over Dominance/Nurturance in Predicting Sexual Aggression in the Confluence Model.

Archives of sexual behavior·2026

Neuropsychiatric characteristics of capgras syndrome in Alzheimer's disease in the CATIE-AD.

International journal of psychiatry in clinical practice·2026

Related Experiment Videos

Diagnosis of Niemann-Pick disease type C on chorionic villus cells

Related Concept Videos

[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].

Aneuploidy: the impact of chromosome imbalance on nuclear organization and overall genome expression.

Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.

Infrared Spectroscopic Imaging of the Biochemical Modifications Induced in the Cerebellum of the Niemann-Pick type C Mouse.

Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome.

Is rapid aneuploidy screening used alone acceptable in prenatal diagnosis? An evaluation of the possible role of ultrasound examination.

Most-favoured-nation pricing for prescription drugs in US Medicare: a cohort study.

Immunogenicity of fractional one-fifth and one-half doses of 17DD yellow fever vaccine compared with full dose in children aged 9-23 months in Uganda: a phase 4, single-blind, randomised clinical trial.

Efficacy and safety of mitapivat in adults with transfusion-dependent α-thalassaemia or β-thalassaemia (ENERGIZE-T): a double-blind, randomised, multicentre, placebo-controlled, phase 3 trial.

How power shapes judgments of culpability: Shield or liability?

Psychological Predictors of Bystander Reactions to the Abuse of Animals and Humans.

"Yeah, it's biased, but … ": Recognition versus moral condemnation of bias across party lines.

Associations Between Emotion Regulation, Callous-Unemotional Traits, and Bullying in Middle Childhood.

The Critical Role of Empathy Over Dominance/Nurturance in Predicting Sexual Aggression in the Confluence Model.

Neuropsychiatric characteristics of capgras syndrome in Alzheimer's disease in the CATIE-AD.

Related Experiment Videos

Diagnosis of Niemann-Pick disease type C on chorionic villus cells

Related Concept Videos

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