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/vufind/Search/Results?lookfor=%22Li%2C+Chumei%22&type=Person&sort=year
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PubPharm (84)
1
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene
PSMC5
in neurodevelopmental proteasomopathies
enthalten in:
bioRxiv.org
| 2024
von
Küry, S.
|
Stanton, J.
|
van Woerden, G.
| +128
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2
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Küry, S.
|
Stanton, J.
|
van Woerden, G.
| +98
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3
Correspondence : Perspectives on the future of dysmorphology
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Li, C.
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4
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
enthalten in:
Brain : a journal of neurology
| 2023
von
Saffari, A.
|
Lau, T.
|
Tajsharghi, H.
| +98
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5
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish
enthalten in:
Science advances
| 2023
von
Patterson, V.
|
Ullah, F.
|
Bryant, L.
| +48
ErratumIn: Sci Adv. 2023 Nov 24;9(47):eadl5515. - PMID 38000037
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6
Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
enthalten in:
Molecular genetics & genomic medicine
| 2023
von
Brady, L.
|
Ballantyne, M.
|
Duck, J.
| +7
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7
Bridging clinical care and research in Ontario, Canada : Maximizing diagnoses from reanalysis of clinical exome sequencing data
enthalten in:
Clinical genetics
| 2023
von
Hartley, T.
|
Soubry, .
|
Acker, M.
| +71
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8
Correspondence : Perspectives on the future of dysmorphology
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2023
von
Li, C.
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9
Bridging clinical care and research in Ontario, Canada : Maximizing diagnoses from reanalysis of clinical exome sequencing data
enthalten in:
Clinical Genetics
| 2023
von
Hartley, T.
|
Soubry, .
|
Acker, M.
| +70
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10
Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
enthalten in:
Molecular Genetics & Genomic Medicine
| 2023
von
Brady, L.
|
Ballantyne, M.
|
Duck, J.
| +7
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American journal of medical genetics. Part A
11
Clinical dysmorphology
5
Clinical chemistry and laboratory medicine
5
Genetics in medicine : official journal of the ...
4
American Journal of Medical Genetics Part C: Se...
4
European journal of human genetics : EJHG
3
American journal of human genetics
3
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Journal of medical genetics
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Advanced Functional Materials
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Brain : a journal of neurology
2
Circulation research
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Fetal diagnosis and therapy
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Human genetics
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Human genetics <Berlin>
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Journal of obstetrics and gynaecology Canada : ...
2
Nature genetics
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Advances in experimental medicine and biology
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Thema
41
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18
Research Support, Non-U.S. Gov't
17
Case Reports
16
Research Support, N.I.H., Extramural
6
Letter
5
DNA-Binding Proteins
4
Comment
3
Genomic Rearrangement
3
Nuclear Localization Signal
3
Splice Acceptor Site
3
Splice Site Mutation
3
Werner Syndrome
2
Extracellular Matrix Proteins
2
MBD5 protein, human
2
Nerve Tissue Proteins
2
Practice Guideline
2
Proteins
2
Transcription Factors
1
1,2-dioleoyl-glycero-3-phosphatidyl ethanolamine
1
1-Alkyl-2-acetylglycerophosphocholine Esterase
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Erscheinungszeitraum
81
2000-
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1900-1999
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