Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Jasmine Nötzli

Dysfibrinogenaemia Associated With a Novel Heterozygous Mutation in FGB (C.680delG) and a Mild Clinical History of Bleeding

Blood Coagulation and Fibrinolysis

Medicine

Hematology

2015

English

Related publications

Novel KRIT1/CCM1 Heterozygous Nonsense Mutation (C.715 C>T) Associated With Cerebral and Cerebellar Cavernous Malformations in a Paediatric Patient

BMJ Case Reports

Medicine

2018

English

Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia

Seminars in Thrombosis and Hemostasis

Cardiovascular Medicine

Hematology

Cardiology

2016

English

A Novel Compound Heterozygous Stxbp2 Mutation in a Case With Familial Hemophagocytic Lymphohistiocytosis

Turkish Journal of Pediatric Disease

2016

English

Clinical Resistance Associated With a Novel MAP2K1 Mutation in a Patient With Langerhans Cell Histiocytosis

Pediatric Blood and Cancer

English

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

Frontiers in Genetics

Genetics

Molecular Medicine

2018

English

Stomatocytosis and Spherocytosis in a Patient With Novel Heterozygous Novel Mutation in the Erythrocyte Protein 4.2 Gene and Parenteral Nutrition-Associated Liver Disease

Clinical Research and Trials

2017

English

Intermediate McAd Deficiency Associated With a Novel Mutation of theACADMGene: C.1052C>T

Case Reports in Genetics

2015

English

Erratum To: A Novel Mutation of the Calcium Sensing Receptor Gene Is Associated With Chronic Pancreatitis in a Family With Heterozygous SPINK1 Mutations

English

Polyneuropathy in a Young Belgian Patient: A Novel Heterozygous Mutation in theWNK1/HSN2gene

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Jasmine Nötzli

Dysfibrinogenaemia Associated With a Novel Heterozygous Mutation in FGB (C.680delG) and a Mild Clinical History of Bleeding

Related publications

Novel KRIT1/CCM1 Heterozygous Nonsense Mutation (C.715 C>T) Associated With Cerebral and Cerebellar Cavernous Malformations in a Paediatric Patient

Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia

A Novel Compound Heterozygous Stxbp2 Mutation in a Case With Familial Hemophagocytic Lymphohistiocytosis

Clinical Resistance Associated With a Novel MAP2K1 Mutation in a Patient With Langerhans Cell Histiocytosis

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

Stomatocytosis and Spherocytosis in a Patient With Novel Heterozygous Novel Mutation in the Erythrocyte Protein 4.2 Gene and Parenteral Nutrition-Associated Liver Disease

Intermediate McAd Deficiency Associated With a Novel Mutation of theACADMGene: C.1052C>T

Erratum To: A Novel Mutation of the Calcium Sensing Receptor Gene Is Associated With Chronic Pancreatitis in a Family With Heterozygous SPINK1 Mutations

Polyneuropathy in a Young Belgian Patient: A Novel Heterozygous Mutation in theWNK1/HSN2gene