نتائج البحث

Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases.

• Authors : Hemminki, Kari^1,2 ; Li, Xinjun²; Försti, Asta^1,2

• Source: BMC Medical Genetics. 2013, Vol. 14 Issue 1, p1-8. 8p.

تفاصيل العنوان

Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib.

• Authors : Bi, Lilia L.¹ ; Pan, George² ; Atkinson, T. Prescott³

• Source: BMC Medical Genetics. 2007, Vol. 8, p41-14. 14p. 2 Charts, 6 Graphs.

تفاصيل العنوان

Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report.

• Authors : Lyu, Xiaodong¹ ; Guo, Zhen¹ ; Li, Yangwei¹

• Source: BMC Medical Genetics. 4/12/2018, Vol. 19 Issue 1, pN.PAG-N.PAG. 1p.

تفاصيل العنوان

DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan.

• Authors : Al-Kzayer LFY; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Nagano, Japan.; Al-Aradi HMH

Subjects: Genetic Association Studies* ; Genetic Predisposition to Disease* ; Mutation*

• Source: BMC medical genetics [BMC Med Genet] 2019 Jun 26; Vol. 20 (1), pp. 114. Date of Electronic Publication: 2019 Jun 26.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

تفاصيل العنوان

Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report.

• Authors : Sheng, Lingshuang¹ ; Zhang, Wei¹ ; Gu, Jia¹

• Source: BMC Medical Genetics. 2/19/2019, Vol. 20 Issue 1, pN.PAG-N.PAG. 1p.

تفاصيل العنوان

DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan

• Authors : Lika’a Fasih Y. Al-Kzayer; Hanadi Munaf H. Al-Aradi; Tomonari Shigemura

Subjects: DOCK8 deficiency; Primary immune deficiency (PID); Dried blood spots

• Source: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)

تفاصيل العنوان

Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report

• Authors : Lingshuang Sheng; Wei Zhang; Jia Gu

Subjects: Haemophagocytic lymphohistiocytosis; Digenic mutation; STXBP2

• Source: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)

تفاصيل العنوان