Add to ORKGSevere congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders: Severe congenital neutropenia (SCN) is a lire primary myelopoiesis disorder, characterized by reduced absolute neutrophil counts from birth, increased susceptibility to recurrent and life-threatening infections, and a preleukemic predisposition
Background: Severe congenital neutropenia (SCN), also known as Kostmann syndrome, was originally rep...
We have analysed a family with nine congenital neutropenia patients in four generations, several of ...
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutat...
Severe congenital neutropenia (SCN) is a rare primary immunodefi ciency disease that is characterize...
Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of heredit...
Severe congenital neutropenia (SCN) is a rare disease. Autosomal recessive forms of SCN are more fre...
Severe congenital neutropenia (SCN) is a rare disease. Autosomal recessive forms of SCN are more fre...
Severe congenital neutropenia (SCN) is a rare primary immunodeficiency. Different genes are found to...
Biallelic mutations in the gene encoding HCLS-associated protein X-1 (HAX1) cause autosomal recessiv...
Severe congenital neutropenia (SCN), Kostmann syndrome is a heterogenous disorder of myelopoiesis ch...
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotyp...
Patients with autosomal dominant (AD), sporadic and X-linked severe congenital neutropenia (SCN) may...
WOS: 000406926000003Aim: Severe congenital neutropenia is a rare immunodeficiency disease characteri...
Current knowledge on the molecular pathogenesis of severe congenital neutropenia indicates that the ...
WOS: 000401520200012PubMed ID: 28169428The genetic basis of haemophagocytic lymphohistiocytosis (HLH...
Background: Severe congenital neutropenia (SCN), also known as Kostmann syndrome, was originally rep...
We have analysed a family with nine congenital neutropenia patients in four generations, several of ...
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutat...
Severe congenital neutropenia (SCN) is a rare primary immunodefi ciency disease that is characterize...
Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of heredit...
Severe congenital neutropenia (SCN) is a rare disease. Autosomal recessive forms of SCN are more fre...
Severe congenital neutropenia (SCN) is a rare disease. Autosomal recessive forms of SCN are more fre...
Severe congenital neutropenia (SCN) is a rare primary immunodeficiency. Different genes are found to...
Biallelic mutations in the gene encoding HCLS-associated protein X-1 (HAX1) cause autosomal recessiv...
Severe congenital neutropenia (SCN), Kostmann syndrome is a heterogenous disorder of myelopoiesis ch...
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotyp...
Patients with autosomal dominant (AD), sporadic and X-linked severe congenital neutropenia (SCN) may...
WOS: 000406926000003Aim: Severe congenital neutropenia is a rare immunodeficiency disease characteri...
Current knowledge on the molecular pathogenesis of severe congenital neutropenia indicates that the ...
WOS: 000401520200012PubMed ID: 28169428The genetic basis of haemophagocytic lymphohistiocytosis (HLH...
Background: Severe congenital neutropenia (SCN), also known as Kostmann syndrome, was originally rep...
We have analysed a family with nine congenital neutropenia patients in four generations, several of ...
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutat...