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/vufind/Search/Results?lookfor=%22Polla%2C+Daniel+L%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Polla%2C+Daniel+L%22&type=Person&sort=year
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PubPharm (12)
1
Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease
enthalten in:
Scientific reports
| 2023
von
Rus, C.
|
Polla, D.
|
Di Bucchianico, S.
| +7
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2
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2021
von
Polla, D.
|
Farazi Fard, M.
|
Tabatabaei, Z.
| +47
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3
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
enthalten in:
American journal of human genetics
| 2021
von
Polla, D.
|
Edmondson, A.
|
Duvet, S.
| +26
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4
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
enthalten in:
American journal of human genetics
| 2020
von
Vissers, L.
|
Kalvakuri, S.
|
de Boer, E.
| +70
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5
Correction : Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
enthalten in:
European journal of human genetics : EJHG
| 2020
von
Polla, D.
|
Rahikkala, E.
|
Bode, M.
| +16
ErratumFor: Eur J Hum Genet. 2019 Aug;27(8):1235-1243. - PMID 30914828
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6
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
enthalten in:
American journal of human genetics
| 2019
von
Dias, C.
|
Punetha, J.
|
Zheng, C.
| +40
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7
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly
enthalten in:
American journal of human genetics
| 2019
von
Richard, E.
|
Polla, D.
|
Assir, M.
| +13
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8
A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient
enthalten in:
Molecular genetics & genomic medicine
| 2019
von
Polla, D.
|
Saunders, H.
|
de Vries, B.
| +2
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9
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
enthalten in:
European journal of human genetics : EJHG
| 2019
von
Polla, D.
|
Rahikkala, E.
|
Bode, M.
| +16
ErratumIn: Eur J Hum Genet. 2019 Sep 10;:. - PMID 31506600
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10
A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient
enthalten in:
Molecular Genetics & Genomic Medicine
| 2019
von
Polla, D.
|
Saunders, H.
|
Vries, B.
| +2
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1
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Zeitschriftentitel
5
American journal of human genetics
2
European journal of human genetics : EJHG
1
Genetics in medicine : official journal of the ...
1
Molecular Genetics & Genomic Medicine
1
Molecular genetics & genomic medicine
1
PloS one
1
Scientific reports
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Thema
10
Journal Article
9
Research Support, Non-U.S. Gov't
5
intellectual disability
4
Research Support, N.I.H., Extramural
2
developmental delay
2
exome sequencing
2
microcephaly
1
63231-63-0
1
9014-25-9
1
Adaptor Proteins, Signal Transducing
1
Biomarkers
1
CCR4 protein, human
1
CCR4-NOT complex
1
CDG
1
CLN6 protein, human
1
CNKSR2
1
CNKSR2 protein, human
1
CNOT1
1
CNOT1 protein, human
1
CRADD Signaling Adaptor Protein
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2020-
7
2010-2019
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