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The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits. [electronic resource] by
- Jansen, C
- Parchi, P
- Jelles, B
- Gouw, A A
- Beunders, G
- van Spaendonk, R M L
- van de Kamp, J M
- Lemstra, A W
- Capellari, S
- Rozemuller, A J M
Producer: 20111107
In:
Neuropathology and applied neurobiology vol. 37
Availability: No items available.
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Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1. [electronic resource] by
- van de Kamp, J M
- Errami, A
- Howidi, M
- Anselm, I
- Winter, S
- Phalin-Roque, J
- Osaka, H
- van Dooren, S J M
- Mancini, G M
- Steinberg, S J
- Salomons, G S
Producer: 20150916
In:
Clinical genetics vol. 87
Availability: No items available.
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Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. [electronic resource] by
- Ruijter, G J G
- Valstar, M J
- van de Kamp, J M
- van der Helm, R M
- Durand, S
- van Diggelen, O P
- Wevers, R A
- Poorthuis, B J
- Pshezhetsky, A V
- Wijburg, F A
Producer: 20080403
In:
Molecular genetics and metabolism vol. 93
Availability: No items available.
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9.
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Clinical features and X-inactivation in females heterozygous for creatine transporter defect. [electronic resource] by
- van de Kamp, J M
- Mancini, G M S
- Pouwels, P J W
- Betsalel, O T
- van Dooren, S J M
- de Koning, I
- Steenweg, M E
- Jakobs, C
- van der Knaap, M S
- Salomons, G S
Producer: 20110524
In:
Clinical genetics vol. 79
Availability: No items available.
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Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy. [electronic resource] by
- Wesdorp, M
- Schreur, V
- Beynon, A J
- Oostrik, J
- van de Kamp, J M
- Elting, M W
- van den Boogaard, M-J H
- Feenstra, I
- Admiraal, R J C
- Kunst, H P M
- Hoyng, C B
- Kremer, H
- Yntema, H G
- Pennings, R J E
- Schraders, M
Producer: 20191115
In:
Clinical genetics vol. 94
Availability: No items available.
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NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. [electronic resource] by
- Overwater, E
- Floor, K
- van Beek, D
- de Boer, K
- van Dijk, T
- Hilhorst-Hofstee, Y
- Hoogeboom, A J M
- van Kaam, K J
- van de Kamp, J M
- Kempers, M
- Krapels, I P C
- Kroes, H Y
- Loeys, B
- Salemink, S
- Stumpel, C T R M
- Verhoeven, V J M
- Wijnands-van den Berg, E
- Cobben, J M
- van Tintelen, J P
- Weiss, M M
- Houweling, A C
- Maugeri, A
Producer: 20171207
In:
European journal of medical genetics vol. 60
Availability: No items available.
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12.
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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. [electronic resource] by
- Bijlsma, E K
- Collins, A
- Papa, F T
- Tejada, M I
- Wheeler, P
- Peeters, E A J
- Gijsbers, A C J
- van de Kamp, J M
- Kriek, M
- Losekoot, M
- Broekma, A J
- Crolla, J A
- Pollazzon, M
- Mucciolo, M
- Katzaki, E
- Disciglio, V
- Ferreri, M I
- Marozza, A
- Mencarelli, M A
- Castagnini, C
- Dosa, L
- Ariani, F
- Mari, F
- Canitano, R
- Hayek, G
- Botella, M P
- Gener, B
- Mínguez, M
- Renieri, A
- Ruivenkamp, C A L
Producer: 20121009
In:
European journal of medical genetics vol. 55
Availability: No items available.
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13.
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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. [electronic resource] by
- van de Kamp, J M
- Betsalel, O T
- Mercimek-Mahmutoglu, S
- Abulhoul, L
- Grünewald, S
- Anselm, I
- Azzouz, H
- Bratkovic, D
- de Brouwer, A
- Hamel, B
- Kleefstra, T
- Yntema, H
- Campistol, J
- Vilaseca, M A
- Cheillan, D
- D'Hooghe, M
- Diogo, L
- Garcia, P
- Valongo, C
- Fonseca, M
- Frints, S
- Wilcken, B
- von der Haar, S
- Meijers-Heijboer, H E
- Hofstede, F
- Johnson, D
- Kant, S G
- Lion-Francois, L
- Pitelet, G
- Longo, N
- Maat-Kievit, J A
- Monteiro, J P
- Munnich, A
- Muntau, A C
- Nassogne, M C
- Osaka, H
- Ounap, K
- Pinard, J M
- Quijano-Roy, S
- Poggenburg, I
- Poplawski, N
- Abdul-Rahman, O
- Ribes, A
- Arias, A
- Yaplito-Lee, J
- Schulze, A
- Schwartz, C E
- Schwenger, S
- Soares, G
- Sznajer, Y
- Valayannopoulos, V
- Van Esch, H
- Waltz, S
- Wamelink, M M C
- Pouwels, P J W
- Errami, A
- van der Knaap, M S
- Jakobs, C
- Mancini, G M
- Salomons, G S
Producer: 20140214
In:
Journal of medical genetics vol. 50
Availability: No items available.
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