A case of deletion of short arm of chromosome 8

Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.

Journal of endocrinological investigation·2009

Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation.

European journal of endocrinology·2007

Effect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutations.

The Journal of clinical endocrinology and metabolism·2004

Free sialic acid storage (Salla) disease in Sweden.

Acta paediatrica (Oslo, Norway : 1992)·2003

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.

Prenatal diagnosis·2001

A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.

Clinical genetics·2001

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Birth defects original article series·1996

Multisite neural tube closure in humans.

Birth defects original article series·1996

Multipath interaction network of annexin A2: multifaceted regulation and translational perspectives in neurological diseases.

Frontiers in genetics·2026

A portable electrochemical platform for azithromycin determination based on batch injection analysis and laser-induced graphene electrode.

Analytical methods : advancing methods and applications·2026

Ultrasensitive SERS detection via hydrodynamic focusing coupled with electric field induced migration.

The Analyst·2026

Extracellular lactate enhances IL-10 transcription via H4K5 lactylation and promotes an A2-like reactive-astrocyte phenotype after ischemic stroke.

Neurobiology of disease·2026

A practical HPLC-UV method for the simultaneous screening of decabromodiphenyl ethane and its debromination products in environmental matrices.

Analytical methods : advancing methods and applications·2026

Finger-prick whole blood analysis via surface-enhanced Raman spectroscopy using centrifugal silver plasmonic paper substrates.

Analytica chimica acta·2026

Related Experiment Videos

A case of deletion of short arm of chromosome 8

Related Concept Videos

Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.

Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation.

Effect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutations.

Free sialic acid storage (Salla) disease in Sweden.

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.

A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Multisite neural tube closure in humans.

Multipath interaction network of annexin A2: multifaceted regulation and translational perspectives in neurological diseases.

A portable electrochemical platform for azithromycin determination based on batch injection analysis and laser-induced graphene electrode.

Ultrasensitive SERS detection via hydrodynamic focusing coupled with electric field induced migration.

Extracellular lactate enhances IL-10 transcription via H4K5 lactylation and promotes an A2-like reactive-astrocyte phenotype after ischemic stroke.

A practical HPLC-UV method for the simultaneous screening of decabromodiphenyl ethane and its debromination products in environmental matrices.

Finger-prick whole blood analysis via surface-enhanced Raman spectroscopy using centrifugal silver plasmonic paper substrates.

Related Experiment Videos

A case of deletion of short arm of chromosome 8

Related Concept Videos

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