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/vufind/Search/Results?lookfor=%22Bunyan%2C+David+J%22&type=Person&sort=year
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PubPharm (80)
1
RNA-sequencing first approach generates new diagnostic candidates in Mendelian disorders
enthalten in:
bioRxiv.org
| 2024
von
Jaramillo Oquendo, C.
|
Wai, H.
|
Rich, W.
| +6
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2
Predicting the impact of rare variants on RNA splicing in CAGI6
enthalten in:
Human genetics
| 2024
von
Lord, J.
|
Oquendo, C.
|
Wai, H.
| +24
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3
Predicting the impact of rare variants on RNA splicing in CAGI6
enthalten in:
bioRxiv.org
| 2023
von
Lord, J.
|
Oquendo, C.
|
Wai, H.
| +24
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4
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease
enthalten in:
Clinical genetics
| 2023
von
Seaby, E.
|
Turner, S.
|
Bunyan, D.
| +4
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5
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease
enthalten in:
Clinical Genetics
| 2023
von
Seaby, E.
|
Turner, S.
|
Bunyan, D.
| +4
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6
Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility
enthalten in:
Journal of reproduction & infertility
| 2022
von
Bunyan, D.
|
Saran, M.
|
Hobbs, J.
| +5
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7
SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype Cohorts
enthalten in:
Cytogenetic and genome research
| 2022
von
Bunyan, D.
|
Hobbs, J.
|
Duncan-Flavell, P.
| +4
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8
Rare dosage abnormalities flanking the SHOX gene
enthalten in:
The Egyptian journal of medical human genetics
| 2021
von
Bunyan, D.
|
Gevers, E.
|
Hobbs, J.
| +12
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9
Rare dosage abnormalities flanking the SHOX gene
enthalten in:
The Egyptian journal of medical human genetics
| 2021
von
Bunyan, D.
|
Gevers, E.
|
Hobbs, J.
| +12
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10
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination
enthalten in:
American journal of medical genetics. Part A
| 2021
von
Edgerley, K.
|
Barnicoat, A.
|
Offiah, A.
| +13
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80
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54
E-Artikel
54
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Zeitschriftentitel
9
American journal of medical genetics. Part A
9
Human genetics
6
Human genetics <Berlin>
5
American journal of human genetics
4
Genetic testing
4
Human mutation
3
American Journal of Medical Genetics Part C: Se...
3
American journal of medical genetics / C
3
BMC nephrology
3
European journal of human genetics : EJHG
3
Genetics in medicine : official journal of the ...
3
Nature communications
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bioRxiv.org
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Cytogenetic and genome research
2
European journal of medical genetics
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Journal of reproduction & infertility
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Kidney international
2
The Egyptian journal of medical human genetics
1
Applied biochemistry and biotechnology / B
1
Clinical Genetics
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Thema
41
Journal Article
21
Research Support, Non-U.S. Gov't
10
Case Reports
5
Homeodomain Proteins
4
Duplication
4
Regulatory element
4
Research Support, N.I.H., Extramural
4
SHOX protein, human
4
Short Stature Homeobox Protein
4
Transcription Factors
3
Albumin Infusion
3
Autosomal dominant tubulointerstitial kidney di...
3
DNA-Binding Proteins
3
Genetic kidney disease
3
Manual Lymphatic Drainage
3
Medium Chain Triglyceride
3
Muscular Dystrophy
3
Noonan Syndrome
3
Prevalence
3
Published Erratum
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Erscheinungszeitraum
73
2000-
4
1900-1999
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