M. Entesarian

发表

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

G. Schulte, S. Baig, N. Dahl, 2011, American journal of human genetics.

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

R. Jonsson, A. Bolstad, Y. Hayashi, 2005, Nature Genetics.

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

H. Engler, R. Raininko, N. Darín, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.

W. Al-Herz, M. Nordenskjöld, H. Hasle, 2010, Blood.

Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3

M. Nordenskjöld, J. Henter, Y. Bryceson, 2013, British journal of haematology.

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2

D. Nilsson, M. Nordenskjöld, J. Henter, 2013, Front. Immunol..

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia

S. Baig, M. Rasool, Muhammad Tariq, 2008, Journal of Human Genetics.

Molecular Genetic Studies of ALSG, Kostmann Syndrome and a Novel Chromosome 10 Inversion

M. Entesarian, 2009 .

FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)

W. Reardon, V. Shashi, N. Dahl, 2007, European Journal of Human Genetics.

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population

H. Stefánsson, N. Dahl, E. Holmberg, 2009, American journal of medical genetics. Part A.

Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing

Adam Ameur, Lars Feuk, L. Feuk, 2013, Human mutation.

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.

H. Ljunggren, B. Fadeel, T. Salmi, 2011, Blood.

Severe congenital neutropenia‐associated JAGN1 mutations unleash a calpain‐dependent cell death programme in myeloid cells

D. Nilsson, B. Fadeel, M. Nordenskjöld, 2020, British journal of haematology.

Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations

J. Palmblad, B. Fadeel, I. van't Hooft, 2008, Journal of internal medicine.

Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.

G Carlsson, J. Palmblad, B. Fadeel, 2007, Biochemical and biophysical research communications.

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production.

W. Al-Herz, H. Ljunggren, M. Nordenskjöld, 2013, Blood.

An Indian Boy with Griscelli Syndrome Type 2: Case Report and Review of Literature

S. Kapoor, B. Tesi, N. Khurana, 2014, Indian journal of dermatology.

Treatment of familial hemophagocytic lymphohistiocytosis with third-party mesenchymal stromal cells.

B. Sander, D. Mougiakakos, R. Jitschin, 2012, Stem cells and development.

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association

N. Dahl, J. Klar, S. Lahsaee, 2010, Journal of Human Genetics.

Re‐evaluation of the dysequilibrium syndrome

R. Raininko, A. Melberg, K. Gustavson, 2011, Acta neurologica Scandinavica.