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De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms. [electronic resource] by
- Powis, Z
- Petrik, I
- Cohen, J S
- Escolar, D
- Burton, J
- van Ravenswaaij-Arts, C M A
- Sival, D A
- Stegmann, A P A
- Kleefstra, T
- Pfundt, R
- Chikarmane, R
- Begtrup, A
- Huether, R
- Tang, S
- Shinde, D N
Producer: 20190925
In:
Clinical genetics vol. 93
Availability: No items available.
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6.
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Adducted thumbs: a clinical clue to genetic diagnosis. [electronic resource] by
- Verhagen, J M A
- Schrander-Stumpel, C T R M
- Blezer, M M J
- Weber, J W
- Schrander, J J P
- Rubio-Gozalbo, M E
- Bakker, J A
- Stegmann, A P A
- Vos, Y J
- Frints, S G M
Producer: 20130812
In:
European journal of medical genetics vol. 56
Availability: No items available.
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7.
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Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. [electronic resource] by
- van den Bosch, B J C
- Gerards, M
- Sluiter, W
- Stegmann, A P A
- Jongen, E L C
- Hellebrekers, D M E I
- Oegema, R
- Lambrichs, E H
- Prokisch, H
- Danhauser, K
- Schoonderwoerd, K
- de Coo, I F M
- Smeets, H J M
Producer: 20120410
In:
Journal of medical genetics vol. 49
Availability: No items available.
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8.
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Congenital hydrocephalus in clinical practice: a genetic diagnostic approach. [electronic resource] by
- Verhagen, J M A
- Schrander-Stumpel, C T R M
- Krapels, I P C
- de Die-Smulders, C E M
- van Lint, F H M
- Willekes, C
- Weber, J W
- Gavilanes, A W D
- Macville, M V E
- Stegmann, A P A
- Engelen, J J M
- Bakker, J
- Vos, Y J
- Frints, S G M
Producer: 20120111
In:
European journal of medical genetics vol. 54
Availability: No items available.
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9.
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Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability. [electronic resource] by
- Reijnders, M R F
- Kousi, M
- van Woerden, G M
- Klein, M
- Bralten, J
- Mancini, G M S
- van Essen, T
- Proietti-Onori, M
- Smeets, E E J
- van Gastel, M
- Stegmann, A P A
- Stevens, S J C
- Lelieveld, S H
- Gilissen, C
- Pfundt, R
- Tan, P L
- Kleefstra, T
- Franke, B
- Elgersma, Y
- Katsanis, N
- Brunner, H G
Producer: 20180430
In:
Nature communications vol. 8
Availability: No items available.
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10.
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De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. [electronic resource] by
- van den Akker, W M R
- Brummelman, I
- Martis, L M
- Timmermans, R N
- Pfundt, R
- Kleefstra, T
- Willemsen, M H
- Gerkes, E H
- Herkert, J C
- van Essen, A J
- Rump, P
- Vansenne, F
- Terhal, P A
- van Haelst, M M
- Cristian, I
- Turner, C E
- Cho, M T
- Begtrup, A
- Willaert, R
- Fassi, E
- van Gassen, K L I
- Stegmann, A P A
- de Vries, B B A
- Schuurs-Hoeijmakers, J H M
Producer: 20190925
In:
Clinical genetics vol. 93
Availability: No items available.
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