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Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. [electronic resource] by
- Mancini, G M S
- Catsman-Berrevoets, C E
- de Coo, I F M
- Aarsen, F K
- Kamphoven, J H J
- Huijmans, J G
- Duran, M
- van der Knaap, M S
- Jakobs, C
- Salomons, G S
Producer: 20050315
In:
American journal of medical genetics. Part A vol. 132A
Availability: No items available.
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43.
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Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. [electronic resource] by
- Meuwissen, M E C
- de Vries, L S
- Verbeek, H A
- Lequin, M H
- Govaert, P P
- Schot, R
- Cowan, F M
- Hennekam, R
- Rizzu, P
- Verheijen, F W
- Wessels, M W
- Mancini, G M S
Producer: 20110421
In:
Neurology vol. 76
Availability: No items available.
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44.
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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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45.
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Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency. [electronic resource] by
- de Wit, M C Y
- de Coo, I F M
- Verbeek, E
- Schot, R
- Schoonderwoerd, G C
- Duran, M
- de Klerk, J B C
- Huijmans, J G M
- Lequin, M H
- Verheijen, F W
- Mancini, G M S
Producer: 20060508
In:
Molecular genetics and metabolism vol. 87
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46.
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Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case. [electronic resource] by
- Garavelli, L
- Guareschi, E
- Errico, S
- Simoni, A
- Bergonzini, P
- Zollino, M
- Gurrieri, F
- Mancini, G M
- Schot, R
- Van Der Spek, P J
- Frigieri, G
- Zonari, P
- Albertini, E
- Giustina, E Della
- Amarri, S
- Banchini, G
- Dobyns, W B
- Neri, G
Producer: 20080314
In:
Neuropediatrics vol. 38
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47.
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Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). [electronic resource] by
- Banka, S
- Lederer, D
- Benoit, V
- Jenkins, E
- Howard, E
- Bunstone, S
- Kerr, B
- McKee, S
- Lloyd, I C
- Shears, D
- Stewart, H
- White, S M
- Savarirayan, R
- Mancini, G M S
- Beysen, D
- Cohn, R D
- Grisart, B
- Maystadt, I
- Donnai, D
Producer: 20151022
In:
Clinical genetics vol. 87
Availability: No items available.
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48.
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Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A. [electronic resource] by
- Oegema, R
- de Klein, A
- Verkerk, A J
- Schot, R
- Dumee, B
- Douben, H
- Eussen, B
- Dubbel, L
- Poddighe, P J
- van der Laar, I
- Dobyns, W B
- van der Spek, P J
- Lequin, M H
- de Coo, I F M
- de Wit, M-C Y
- Wessels, M W
- Mancini, G M S
Publication details: Molecular syndromology Sep 2010
In:
Molecular syndromology vol. 1
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49.
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Male patients affected by mosaic PCDH19 mutations: five new cases. [electronic resource] by
- de Lange, I M
- Rump, P
- Neuteboom, R F
- Augustijn, P B
- Hodges, K
- Kistemaker, A I
- Brouwer, O F
- Mancini, G M S
- Newman, H A
- Vos, Y J
- Helbig, K L
- Peeters-Scholte, C
- Kriek, M
- Knoers, N V
- Lindhout, D
- Koeleman, B P C
- van Kempen, M J A
- Brilstra, E H
Producer: 20180424
In:
Neurogenetics vol. 18
Availability: No items available.
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50.
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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
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51.
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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. [electronic resource] by
- Koolen, D A
- Sharp, A J
- Hurst, J A
- Firth, H V
- Knight, S J L
- Goldenberg, A
- Saugier-Veber, P
- Pfundt, R
- Vissers, L E L M
- Destrée, A
- Grisart, B
- Rooms, L
- Van der Aa, N
- Field, M
- Hackett, A
- Bell, K
- Nowaczyk, M J M
- Mancini, G M S
- Poddighe, P J
- Schwartz, C E
- Rossi, E
- De Gregori, M
- Antonacci-Fulton, L L
- McLellan, M D
- Garrett, J M
- Wiechert, M A
- Miner, T L
- Crosby, S
- Ciccone, R
- Willatt, L
- Rauch, A
- Zenker, M
- Aradhya, S
- Manning, M A
- Strom, T M
- Wagenstaller, J
- Krepischi-Santos, A C
- Vianna-Morgante, A M
- Rosenberg, C
- Price, S M
- Stewart, H
- Shaw-Smith, C
- Brunner, H G
- Wilkie, A O M
- Veltman, J A
- Zuffardi, O
- Eichler, E E
- de Vries, B B A
Producer: 20081231
In:
Journal of medical genetics vol. 45
Availability: No items available.
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52.
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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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