TaqI/ClaI polymorphism in the P4HB gene

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Clinical genetics·2017

[Prehospital analgesia by paramedics in Rhineland-Palatinate : Feasability, analgesic effectiveness and safety of intravenous paracetamol].

Der Anaesthesist·2015

Genome-wide identification of Sox8-, and Sox9-dependent genes during early post-natal testis development in the mouse.

Andrology·2013

[The White Paper on treating medical emergencies preclinically and at hospital : how can it be implemented?].

Der Anaesthesist·2011

A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal.

Genetic counseling (Geneva, Switzerland)·2011

Human NK cells require caspases for activation-induced proliferation and cytokine release but not for cytotoxicity.

Scandinavian journal of immunology·2010

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

Human molecular genetics·2026

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Human molecular genetics·2026

Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics.

Human molecular genetics·2026

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

Human molecular genetics·2026

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Human molecular genetics·2026

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

Human molecular genetics·2026

No Germs, Just Cytokines: A Case of Immunotherapy-Induced Hemophagocytic Lymphohistiocytosis Masquerading as Neutropenic Sepsis in a Patient With Inflammatory Breast Cancer.

Cureus·2026

LigaSure™ Hemorrhoidectomy for Complex Grade III Hemorrhoidal Disease: A Prospective, Single-Center, Cohort Study.

Cureus·2026

Study on the predictive value of femoral head HU values in hip fractures.

Frontiers in surgery·2026

Atrial volume reduction correlates with early improvement in hemorrhage-associated normal pressure hydrocephalus-a 3D computed tomography volumetric study.

Frontiers in neurology·2026

Radially adjustable Tigertriever demonstrates higher reperfusion compared to self-expanding stent-retrievers during mechanical thrombectomy of large vessel occlusions: a systematic review and meta-analysis.

Frontiers in neurology·2026

Diabetes-duration-related shifts in inflammation-resolving lipid mediator signatures and their association with 3-month functional outcome in large artery atherosclerotic stroke.

Frontiers in neurology·2026

Related Experiment Videos

TaqI/ClaI polymorphism in the P4HB gene

Related Concept Videos

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

[Prehospital analgesia by paramedics in Rhineland-Palatinate : Feasability, analgesic effectiveness and safety of intravenous paracetamol].

Genome-wide identification of Sox8-, and Sox9-dependent genes during early post-natal testis development in the mouse.

[The White Paper on treating medical emergencies preclinically and at hospital : how can it be implemented?].

A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal.

Human NK cells require caspases for activation-induced proliferation and cytokine release but not for cytotoxicity.

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics.

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

No Germs, Just Cytokines: A Case of Immunotherapy-Induced Hemophagocytic Lymphohistiocytosis Masquerading as Neutropenic Sepsis in a Patient With Inflammatory Breast Cancer.

LigaSure™ Hemorrhoidectomy for Complex Grade III Hemorrhoidal Disease: A Prospective, Single-Center, Cohort Study.

Study on the predictive value of femoral head HU values in hip fractures.

Atrial volume reduction correlates with early improvement in hemorrhage-associated normal pressure hydrocephalus-a 3D computed tomography volumetric study.

Radially adjustable Tigertriever demonstrates higher reperfusion compared to self-expanding stent-retrievers during mechanical thrombectomy of large vessel occlusions: a systematic review and meta-analysis.

Diabetes-duration-related shifts in inflammation-resolving lipid mediator signatures and their association with 3-month functional outcome in large artery atherosclerotic stroke.

Related Experiment Videos

TaqI/ClaI polymorphism in the P4HB gene

Related Concept Videos

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