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/vufind/Search/Results?filter%5B%5D=topic_facet%3A%22Case+Reports%22&filter%5B%5D=topic_facet%3A%22Research+Support%2C+N.I.H.%2C+Extramural%22&lookfor=%22Humans%22&type=Subject
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PubPharm (2.856)
1
A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35
enthalten in:
The Journal of biological chemistry
| 2024
von
Aguila, A.
|
Salah, S.
|
Kulasekaran, G.
| +6
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2
Severe acute myositis and myocarditis on initiation of 6-weekly pembrolizumab post-COVID-19 mRNA vaccination
enthalten in:
Journal for immunotherapy of cancer
| 2024
von
Watson, R.
|
Ye, W.
|
Taylor, C.
| +16
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3
Clinical and cellular phenotypes resulting from a founder mutation in IL10RB
enthalten in:
Clinical and experimental immunology
| 2024
von
Mao, Z.
|
Betti, M.
|
Cedeno, M.
| +5
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4
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder
enthalten in:
Genes
| 2024
von
Cordova, I.
|
Blesson, A.
|
Savatt, J.
| +6
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5
KRAS mutations, autoimmunity and female sex in chronic myelomonocytic leukemia
enthalten in:
Leukemia research
| 2024
von
Osman, A.
|
Rets, A.
|
Patel, A.
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6
A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia
enthalten in:
Clinical genetics
| 2024
von
Bzdęga, K.
|
Biela, M.
|
Deutsch, G.
| +6
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7
Promising response to vemurafenib and cobimetinib treatment for BRAF V600E mutated craniopharyngioma : a case report and literature review
enthalten in:
CNS oncology
| 2024
von
Yu, N.
|
Raslan, O.
|
Lee, H.
| +5
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8
JAK2 R683S Mutation Resulting in Dual Diagnoses of Chronic Eosinophilic Leukemia and Myelodysplastic/Myeloproliferative Overlap Syndrome
enthalten in:
Journal of the National Comprehensive Cancer Network : JNCCN
| 2023
von
Krah, N.
|
Miotke, L.
|
Li, P.
| +4
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9
A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility
enthalten in:
Documenta ophthalmologica. Advances in ophthalmology
| 2023
von
Sylla, M.
|
Kolesinkova, M.
|
da Costa, B.
| +3
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10
Durable response to amivantamab in treatment refractory NSCLC harboring EGFR and complex MET mutations : A case report
enthalten in:
Lung cancer (Amsterdam, Netherlands)
| 2023
von
Schmalz, L.
|
Bloomer, C.
|
Zhang, W.
| +1
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Thema: Case Reports
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Thema: Research Support, N.I.H., Extramural
Medienart
2.856
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2.586
E-Artikel
2.586
E-Ressourcen
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American journal of medical genetics. Part A
77
The Journal of clinical endocrinology and metab...
62
American journal of human genetics
54
Cold Spring Harbor molecular case studies
54
Neurology
53
Human mutation
51
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44
The Journal of allergy and clinical immunology
39
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36
Journal of medical genetics
35
European journal of human genetics : EJHG
35
Journal of clinical immunology
35
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34
Blood
33
Human molecular genetics
33
Molecular genetics and metabolism
31
The New England journal of medicine
28
Acta neuropathologica
26
Archives of neurology
26
Genes, chromosomes & cancer
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Thema
Case Reports
Research Support, N.I.H., Extramural
2.508
Journal Article
1.878
Research Support, Non-U.S. Gov't
244
Letter
160
Membrane Proteins
144
Antibodies, Monoclonal, Humanized
142
DNA-Binding Proteins
142
EC 2.7.10.1
136
Research Support, U.S. Gov't, Non-P.H.S.
128
Transcription Factors
119
EC 2.7.11.1
104
Review
98
Nuclear Proteins
96
EC 3.6.1.-
96
Research Support, N.I.H., Intramural
90
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87
Nerve Tissue Proteins
81
Antineoplastic Agents
76
Oncogene Proteins, Fusion
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546
2020-
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2010-2019
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