Add to ORKGNeurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gen
Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive neurodegenera...
PubMed ID: 31321910Background: Severe congenital neutropenia is a rare disease, and autosomal domina...
Contains fulltext : 168099.pdf (Publisher’s version ) (Open Access)Congenital neph...
Biallelic mutations in the gene encoding HCLS-associated protein X-1 (HAX1) cause autosomal recessiv...
Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental di...
Homozygous mutations in HAX1 cause an autosomal recessive form of severe congenital neutropenia (CN)...
Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of heredit...
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotyp...
Congenital neutropenia and cyclic neu-tropenia are disorders of neutrophil pro-duction predisposing ...
Severe congenital neutropenia (SCN) is a rare primary immunodefi ciency disease that is characterize...
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...
WOS: 000406926000003Aim: Severe congenital neutropenia is a rare immunodeficiency disease characteri...
Background Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE...
Severe congenital neutropenia (SCN) is a rare primary immunodeficiency. Different genes are found to...
Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive neurodegenera...
PubMed ID: 31321910Background: Severe congenital neutropenia is a rare disease, and autosomal domina...
Contains fulltext : 168099.pdf (Publisher’s version ) (Open Access)Congenital neph...
Biallelic mutations in the gene encoding HCLS-associated protein X-1 (HAX1) cause autosomal recessiv...
Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental di...
Homozygous mutations in HAX1 cause an autosomal recessive form of severe congenital neutropenia (CN)...
Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of heredit...
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotyp...
Congenital neutropenia and cyclic neu-tropenia are disorders of neutrophil pro-duction predisposing ...
Severe congenital neutropenia (SCN) is a rare primary immunodefi ciency disease that is characterize...
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...
WOS: 000406926000003Aim: Severe congenital neutropenia is a rare immunodeficiency disease characteri...
Background Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE...
Severe congenital neutropenia (SCN) is a rare primary immunodeficiency. Different genes are found to...
Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive neurodegenera...
PubMed ID: 31321910Background: Severe congenital neutropenia is a rare disease, and autosomal domina...
Contains fulltext : 168099.pdf (Publisher’s version ) (Open Access)Congenital neph...