Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis

Estimating motor unit numbers from a CMAP scan: Repeatability study on three muscles at 15 centres.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology·2023

Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.

Journal of internal medicine·2018

Influence of meteorological data on sun tolerance in patients with erythropoietic protoporphyria in France.

The British journal of dermatology·2016

Glucose tolerance and cardiovascular risk biomarkers in non-diabetic non-obese obstructive sleep apnea patients: Effects of long-term continuous positive airway pressure.

Respiratory medicine·2016

[Porphyrias and haem related disorders].

La Revue de medecine interne·2016

Metabolic reprogramming: a hallmark of viral oncogenesis.

Oncogene·2015

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.

Human genetics·2026

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Human genetics·2026

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Human genetics·2026

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

Human genetics·2026

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Human genetics·2026

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Human genetics·2026

Yeast Knockout Strain Collection: Driving Functional Genomics, Biotechnological Applications and Human Disease Research.

Yeast (Chichester, England)·2026

Co-segregation of WFS1 p.Gly494Ser variant with recurrent vasovagal syncope in a multigenerational family: a candidate susceptibility variant needing independent validation.

Frontiers in pediatrics·2026

Chromosome painting in plants: history and future perspectives.

Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology·2026

A chromosome-scale genome of Capsicum pubescens provides insights into candidate terpene-associated gene clusters and pan variation of terpene synthases.

Planta·2026

Identification of Two Novel Compound Heterozygous ADAMTS17 Variants Associated With Weill-Marchesani Syndrome 4.

Laboratory investigation; a journal of technical methods and pathology·2026

Genomic inbreeding coefficients and inbreeding depression of semen production traits at genome-wide and chromosomal levels in Japanese Holstein bulls.

Journal of dairy science·2026

Related Experiment Videos

Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis

Related Concept Videos

Estimating motor unit numbers from a CMAP scan: Repeatability study on three muscles at 15 centres.

Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.

Influence of meteorological data on sun tolerance in patients with erythropoietic protoporphyria in France.

Glucose tolerance and cardiovascular risk biomarkers in non-diabetic non-obese obstructive sleep apnea patients: Effects of long-term continuous positive airway pressure.

[Porphyrias and haem related disorders].

Metabolic reprogramming: a hallmark of viral oncogenesis.

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Yeast Knockout Strain Collection: Driving Functional Genomics, Biotechnological Applications and Human Disease Research.

Co-segregation of WFS1 p.Gly494Ser variant with recurrent vasovagal syncope in a multigenerational family: a candidate susceptibility variant needing independent validation.

Chromosome painting in plants: history and future perspectives.

A chromosome-scale genome of Capsicum pubescens provides insights into candidate terpene-associated gene clusters and pan variation of terpene synthases.

Identification of Two Novel Compound Heterozygous ADAMTS17 Variants Associated With Weill-Marchesani Syndrome 4.

Genomic inbreeding coefficients and inbreeding depression of semen production traits at genome-wide and chromosomal levels in Japanese Holstein bulls.

Related Experiment Videos

Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis

Related Concept Videos

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