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/vufind/Search/Results?lookfor=%22Stuurman%2C+Kyra+E%22&type=Person&sort=year
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PubPharm (25)
1
Response to the comment on Diderich et al. "The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis" (EJMG 66(10),104844)
enthalten in:
European journal of medical genetics
| 2024
von
Diderich, K.
|
Klapwijk, J.
|
van der Schoot, V.
| +8
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2
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis
enthalten in:
European journal of medical genetics
| 2023
von
Diderich, K.
|
Klapwijk, J.
|
van der Schoot, V.
| +8
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3
The effects of an online decision aid to support the reproductive decision‐making process of genetically at risk couples—A pilot study
enthalten in:
Journal of Genetic Counseling
| 2023
von
Severijns, Y.
|
Heijmans, M.
|
Die‐Smulders, C.
| +10
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4
The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples-A pilot study
enthalten in:
Journal of genetic counseling
| 2023
von
Severijns, Y.
|
Heijmans, M.
|
de Die-Smulders, C.
| +10
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5
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
enthalten in:
Translational psychiatry
| 2022
von
Dingemans, A.
|
Truijen, K.
|
van de Ven, S.
| +32
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6
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
enthalten in:
Genes
| 2021
von
van der Sluijs, P.
|
Alders, M.
|
Dingemans, A.
| +20
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7
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
enthalten in:
American journal of human genetics
| 2021
von
Chopra, M.
|
McEntagart, M.
|
Clayton-Smith, J.
| +81
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8
Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan : Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy
enthalten in:
Frontiers in medicine
| 2021
von
Stuurman, K.
|
van der Mespel-Brouwer, M.
|
Engels, M.
| +3
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9
Clinical and Functional Consequences of C-Terminal Variants in MCT8 : A Case Series
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2021
von
van Geest, F.
|
Meima, M.
|
Stuurman, K.
| +12
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10
Primrose syndrome : Characterization of the phenotype in 42 patients
enthalten in:
Clinical genetics
| 2020
von
Melis, D.
|
Carvalho, D.
|
Barbaro-Dieber, T.
| +27
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Zeitschriftentitel
3
Prenatal diagnosis
2
Acta Neuropathologica Communications
2
European journal of medical genetics
1
Acta neuropathologica communications
1
American Journal of Medical Genetics Part C: Se...
1
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Thema
16
Journal Article
8
Research Support, Non-U.S. Gov't
5
Case Reports
4
Transcription Factors
3
intellectual disability
2
DNA-Binding Proteins
2
Foetal akinesia
2
Letter
2
Multidisciplinary team
2
Multiple pterygium syndrome
2
Myopathy
2
Pre- and post-test counseling
2
Prenatal diagnosis
2
Prenatal exome sequencing
2
RYR1 mutations
2
Research Support, N.I.H., Extramural
2
prenatal
1
(joint informed) decision-making
1
3-Hydroxyacyl CoA Dehydrogenases
1
5688UTC01R
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Erscheinungszeitraum
14
2020-
11
2010-2019
Erscheinungsjahr(e)
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Sprache
21
Englisch
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