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Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome. [electronic resource] by
- Freriks, Kim
- Timmermans, Janneke
- Beerendonk, Catharina C M
- Verhaak, Chris M
- Netea-Maier, Romana T
- Otten, Barto J
- Braat, Didi D M
- Smeets, Dominique F C M
- Kunst, Dirk H P M
- Hermus, Ad R M M
- Timmers, Henri J L M
Producer: 20111123
In:
The Journal of clinical endocrinology and metabolism vol. 96
Availability: No items available.
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8.
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CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation. [electronic resource] by
- Mukhopadhyay, Arijit
- Kramer, Jamie M
- Merkx, Gerard
- Lugtenberg, Dorien
- Smeets, Dominique F
- Oortveld, Merel A W
- Blokland, Ellen A W
- Agrawal, Jyoti
- Schenck, Annette
- van Bokhoven, Hans
- Huys, Erik
- Schoenmakers, Eric F
- van Kessel, Ad Geurts
- van Nouhuys, C Erik
- Cremers, Frans P M
Producer: 20100907
In:
Human genetics vol. 128
Availability: No items available.
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9.
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Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. [electronic resource] by
- Swinkels, Mariëlle E M
- Simons, Annet
- Smeets, Dominique F
- Vissers, Lisenka E
- Veltman, Joris A
- Pfundt, Rolph
- de Vries, Bert B A
- Faas, Brigitte H W
- Schrander-Stumpel, Connie T R M
- McCann, Emma
- Sweeney, Elizabeth
- May, Paul
- Draaisma, Jos M
- Knoers, Nine V
- van Kessel, Ad Geurts
- van Ravenswaaij-Arts, Conny M A
Producer: 20080626
In:
American journal of medical genetics. Part A vol. 146A
Availability: No items available.
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10.
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Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome. [electronic resource] by
- Freriks, Kim
- Timmers, Henri J L M
- Netea-Maier, Romana T
- Beerendonk, Catharina C M
- Otten, Barto J
- van Alfen-van der Velden, Janiëlle A E M
- Traas, Maaike A F
- Mieloo, Hanneke
- van de Zande, Guillaume W H J F L
- Hoefsloot, Lies H
- Hermus, Ad R M M
- Smeets, Dominique F C M
Producer: 20140325
In:
European journal of medical genetics vol. 56
Availability: No items available.
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11.
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Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment. [electronic resource] by
- Verver, Eva J J
- Freriks, Kim
- Sas, Theo C J
- Huygen, Patrick L M
- Pennings, Ronald J E
- Smeets, Dominique F C M
- Hermus, Ad R M M
- Menke, Leonie A
- Wit, Jan M
- Otten, Barto J
- van Alfen-van der Velden, Janiëlle A E M
- de Muinck Keizer-Schrama, Sabine M P F
- Topsakal, Vedat
- Admiraal, Ronald J C
- Timmers, Henri J L M
- Kunst, Henricus P M
Producer: 20150915
In:
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology vol. 35
Availability: No items available.
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12.
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Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. [electronic resource] by
- de Greef, Jessica C
- Wang, Jun
- Balog, Judit
- den Dunnen, Johan T
- Frants, Rune R
- Straasheijm, Kirsten R
- Aytekin, Caner
- van der Burg, Mirjam
- Duprez, Laurence
- Ferster, Alina
- Gennery, Andrew R
- Gimelli, Giorgio
- Reisli, Ismail
- Schuetz, Catharina
- Schulz, Ansgar
- Smeets, Dominique F C M
- Sznajer, Yves
- Wijmenga, Cisca
- van Eggermond, Marja C
- van Ostaijen-Ten Dam, Monique M
- Lankester, Arjan C
- van Tol, Maarten J D
- van den Elsen, Peter J
- Weemaes, Corry M
- van der Maarel, Silvère M
Producer: 20110817
In:
American journal of human genetics vol. 88
Availability: No items available.
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13.
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Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. [electronic resource] by
- Verhagen, Mijke M M
- Last, James I
- Hogervorst, Frans B L
- Smeets, Dominique F C M
- Roeleveld, Nel
- Verheijen, Frans
- Catsman-Berrevoets, Coriene E
- Wulffraat, Nico M
- Cobben, Jan M
- Hiel, Johan
- Brunt, Ewout R
- Peeters, Els A J
- Gómez Garcia, Encarna B
- van der Knaap, Marjo S
- Lincke, Carsten R
- Laan, Laura A E M
- Tijssen, Marina A J
- van Rijn, Monique A
- Majoor-Krakauer, Danielle
- Visser, Marjan
- van 't Veer, Laura J
- Kleijer, Wim J
- van de Warrenburg, Bart P C
- Warris, Adilia
- de Groot, Imelda J M
- de Groot, Ronald
- Broeks, Annegien
- Preijers, Frank
- Kremer, Berry H P H
- Weemaes, Corry M R
- Taylor, Malcolm A M R
- van Deuren, Marcel
- Willemsen, Michèl A A P
Producer: 20120608
In:
Human mutation vol. 33
Availability: No items available.
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