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PubPharm (98)
1
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome : Recommendation for cancer screening
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Vocke, C.
|
Fleming, L.
|
Piskorski, A.
| +14
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2
A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome : Recommendation for cancer screening
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2023
von
Vocke, C.
|
Fleming, L.
|
Piskorski, A.
| +14
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3
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome : Keys to suspecting the diagnosis
enthalten in:
American journal of medical genetics. Part C, Seminars in medical genetics
| 2022
von
Forsyth, R.
|
Parisi, M.
|
Altintas, B.
| +8
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4
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome : Keys to suspecting the diagnosis
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2022
von
Forsyth, R.
|
Parisi, M.
|
Altintas, B.
| +8
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5
Publisher Correction : Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence
enthalten in:
Nature genetics
| 2021
von
Goldmann, J.
|
Seplyarskiy, V.
|
Wong, W.
| +8
ErratumFor: Nat Genet. 2018 Apr;50(4):487-492. - PMID 29507425
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6
Liver prometastatic reaction : Stimulating factors and responsive cancer phenotypes
enthalten in:
Seminars in cancer biology
| 2021
von
Vidal-Vanaclocha, F.
|
Crende, O.
|
García de Durango, C.
| +14
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7
Differences in maternal gene expression in Cesarean section delivery compared with vaginal delivery
enthalten in:
Scientific reports
| 2020
von
Kothiyal, P.
|
Schulkers, K.
|
Liu, X.
| +9
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8
Gut microbial composition difference between pediatric ALL survivors and siblings
enthalten in:
Pediatric hematology and oncology
| 2020
von
Thomas, R.
|
Wong, W.
|
Saadon, R.
| +5
CommentIn: Pediatr Hematol Oncol. 2020 Sep;37(6):451-454. - PMID 32701381
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9
Assessment of the Urinary Microbiome in Children Younger Than 48 Months
enthalten in:
The Pediatric infectious disease journal
| 2020
von
Kinneman, L.
|
Zhu, W.
|
Wong, W.
| +10
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10
Gram-negative Microbiota Blooms in Premature Twins Discordant for Parenteral Nutrition-associated Cholestasis
enthalten in:
Journal of pediatric gastroenterology and nutrition
| 2020
von
Hourigan, S.
|
Moutinho, T.
|
Berenz, A.
| +13
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98
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Zeitschriftentitel
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Journal of medical genetics
7
American journal of medical genetics. Part A
6
BMC veterinary research
5
Human mutation
5
Molecular genetics and metabolism
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Human genetics
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Human genetics <Berlin>
4
Nature genetics
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BMC cancer
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BMC urology
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Brain : a journal of neurology
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American Journal of Medical Genetics Part C: Se...
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American journal of human genetics
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Cold Spring Harbor molecular case studies
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18
Research Support, N.I.H., Intramural
18
Research Support, Non-U.S. Gov't
15
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9
Research Support, N.I.H., Extramural
6
Joubert syndrome
4
Genetics
4
Mutation
4
RAI1 protein, human
4
Trans-Activators
4
Transcription Factors
4
ciliopathy
3
Breathing Abnormality
3
Cerebellum
3
Childhood cancers
3
Cognition
3
Cystinosis
3
Cystoscopy
3
Drug resistance
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Exome Analysis
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2020-
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