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  • 1-10 ل  10 نتائج ل ""A20 haploinsufficiency""

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Publication : pediatric rheumatology online journal
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Academic Journal

A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q

Subjects: A20 haploinsufficiency; Chromosome deletion; Autoinflammatory

  • Source: Pediatric Rheumatology Online Journal, Vol 22, Iss 1, Pp 1-7 (2024)

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Academic Journal

Clinical characteristics and genetic analysis of A20 haploinsufficiency

Subjects: A20 haploinsufficiency; Behçet-like syndrome; Tumor necrosis factor antagonists

  • Source: Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-10 (2021)

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Academic Journal

A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q.

  • Authors : Zhang F; Department of Neonatology, Hunan Children's Hospital, Changsha, Hunan, China.; Zhang L

Subjects: Haploinsufficiency*/Haploinsufficiency*/Haploinsufficiency*/genetics ; Chromosomes, Human, Pair 6*/Chromosomes, Human, Pair 6*/Chromosomes, Human, Pair 6*/genetics ; Sequence Deletion*

  • Source: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2024 Jan 05; Vol. 22 (1), pp. 12. Date of Electronic Publication: 2024 Jan 05.Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096

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Academic Journal

Clinical characteristics and genetic analysis of A20 haploinsufficiency.

  • Authors : Zhang D; Capital Institute of Pediatrics, 2 yabao road, Chaoyang District, Beijing, China.; Su G

Subjects: Autoantibodies*/Autoantibodies*/Autoantibodies*/analysis ; Autoantibodies*/Autoantibodies*/Autoantibodies*/classification ; Gastrointestinal Diseases*/Gastrointestinal Diseases*/Gastrointestinal Diseases*/diagnosis

  • Source: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2021 May 24; Vol. 19 (1), pp. 75. Date of Electronic Publication: 2021 May 24.Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096

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Academic Journal

TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases

Subjects: A20 haploinsufficiency; HA20; Hemophagocytic lymphohistiocytosis

  • Source: Pediatric Rheumatology Online Journal, Vol 20, Iss 1, Pp 1-8 (2022)

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Academic Journal

Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation

Subjects: Recurrent aphthous stomatitis; Behçet’s disease; Systemic Lupus Erythematosus

  • Source: Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-10 (2021)

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Academic Journal

Efficacy and safety of thalidomide in children with monogenic autoinflammatory diseases: a single-center, real-world-evidence study

Subjects: Thalidomide; Monogenic autoinflammatory disease; Efficacy

  • Source: Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-10 (2023)

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Academic Journal

TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases.

  • Authors : Aslani N; Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran.; Pediatric Rheumatology Society of Iran, Tehran, Iran.

Subjects: Cyclosporins*/Cyclosporins*/Cyclosporins*/genetics ; Lymphohistiocytosis, Hemophagocytic*/Lymphohistiocytosis, Hemophagocytic*/Lymphohistiocytosis, Hemophagocytic*/diagnosis ; Lymphohistiocytosis, Hemophagocytic*/Lymphohistiocytosis, Hemophagocytic*/Lymphohistiocytosis, Hemophagocytic*/genetics

  • Source: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2022 Sep 05; Vol. 20 (1), pp. 78. Date of Electronic Publication: 2022 Sep 05.Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096

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Academic Journal

Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation.

  • Authors : Girardelli M; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Valencic E

Subjects: Behcet Syndrome*/Behcet Syndrome*/Behcet Syndrome*/drug therapy ; Behcet Syndrome*/Behcet Syndrome*/Behcet Syndrome*/genetics ; Behcet Syndrome*/Behcet Syndrome*/Behcet Syndrome*/physiopathology

  • Source: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2021 May 10; Vol. 19 (1), pp. 70. Date of Electronic Publication: 2021 May 10.Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096

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Academic Journal

Efficacy and safety of thalidomide in children with monogenic autoinflammatory diseases: a single-center, real-world-evidence study.

  • Authors : Zhang C; Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Shuaifuyuan Wangfujing Dongcheng District, Beijing, 100730, China.; Yu Z

Subjects: Hereditary Autoinflammatory Diseases*/Hereditary Autoinflammatory Diseases*/Hereditary Autoinflammatory Diseases*/drug therapy ; Hereditary Autoinflammatory Diseases*/Hereditary Autoinflammatory Diseases*/Hereditary Autoinflammatory Diseases*/genetics ; Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/drug therapy Periodic fever, familial, autosomal dominant

  • Source: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2023 Oct 17; Vol. 21 (1), pp. 124. Date of Electronic Publication: 2023 Oct 17.Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096

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  • 1-10 ل  10 نتائج ل ""A20 haploinsufficiency""