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45.
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Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. [electronic resource] by
- Mazzeu, J F
- Vianna-Morgante, A M
- Krepischi, A C V
- Oudakker, A
- Rosenberg, C
- Szuhai, K
- McGill, J
- Maccraughan, J
- van Bokhoven, H
- Brunner, H G
Producer: 20100914
In:
Clinical genetics vol. 77
Availability: No items available.
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46.
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Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. [electronic resource] by
- Krepischi-Santos, A C V
- Rajan, D
- Temple, I K
- Shrubb, V
- Crolla, J A
- Huang, S
- Beal, S
- Otto, P A
- Carter, N P
- Vianna-Morgante, A M
- Rosenberg, C
Producer: 20090730
In:
Cytogenetic and genome research vol. 125
Availability: No items available.
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47.
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Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. [electronic resource] by
- Rosenberg, C
- Knijnenburg, J
- Bakker, E
- Vianna-Morgante, A M
- Sloos, W
- Otto, P A
- Kriek, M
- Hansson, K
- Krepischi-Santos, A C V
- Fiegler, H
- Carter, N P
- Bijlsma, E K
- van Haeringen, A
- Szuhai, K
- Tanke, H J
Producer: 20060811
In:
Journal of medical genetics vol. 43
Availability: No items available.
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48.
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High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation. [electronic resource] by
- Jehee, F S
- Krepischi-Santos, A C V
- Rocha, K M
- Cavalcanti, D P
- Kim, C A
- Bertola, D R
- Alonso, L G
- D'Angelo, C S
- Mazzeu, J F
- Froyen, G
- Lugtenberg, D
- Vianna-Morgante, A M
- Rosenberg, C
- Passos-Bueno, M R
Producer: 20080918
In:
Journal of medical genetics vol. 45
Availability: No items available.
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49.
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Chromosome imbalances in syndromic hearing loss. [electronic resource] by
- Catelani, A L P M
- Krepischi, A C V
- Kim, C A
- Kok, F
- Otto, P A
- Auricchio, M T B M
- Mazzeu, J F
- Uehara, D T
- Costa, S S
- Knijnenburg, J
- Tabith, A
- Vianna-Morgante, A M
- Mingroni-Netto, R C
- Rosenberg, C
Producer: 20100225
In:
Clinical genetics vol. 76
Availability: No items available.
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50.
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Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. [electronic resource] by
- Krepischi-Santos, A C V
- Vianna-Morgante, A M
- Jehee, F S
- Passos-Bueno, M R
- Knijnenburg, J
- Szuhai, K
- Sloos, W
- Mazzeu, J F
- Kok, F
- Cheroki, C
- Otto, P A
- Mingroni-Netto, R C
- Varela, M
- Koiffmann, C
- Kim, C A
- Bertola, D R
- Pearson, P L
- Rosenberg, C
Producer: 20061212
In:
Cytogenetic and genome research vol. 115
Availability: No items available.
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51.
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9th international workshop on fragile X syndrome and X-linked mental retardation. [electronic resource] by
- Fryns, J P
- Borghgraef, M
- Brown, T W
- Chelly, J
- Fisch, G S
- Hamel, B
- Hanauer, A
- Lacombe, D
- Luo, L
- MacPherson, J N
- Mandel, J L
- Moraine, C
- Mulley, J
- Nelson, D
- Oostra, B
- Partington, M
- Ramakers, G J
- Ropers, H H
- Rousseau, F
- Schwartz, C
- Steinbach, P
- Stoll, C
- Tranebjaerg, L
- Turner, G
- Van Bokhoven, H
- Vianna-Morgante, A
Producer: 20001107
In:
American journal of medical genetics vol. 94
Availability: No items available.
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52.
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Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data. [electronic resource] by
- Allingham-Hawkins, D J
- Babul-Hirji, R
- Chitayat, D
- Holden, J J
- Yang, K T
- Lee, C
- Hudson, R
- Gorwill, H
- Nolin, S L
- Glicksman, A
- Jenkins, E C
- Brown, W T
- Howard-Peebles, P N
- Becchi, C
- Cummings, E
- Fallon, L
- Seitz, S
- Black, S H
- Vianna-Morgante, A M
- Costa, S S
- Otto, P A
- Mingroni-Netto, R C
- Murray, A
- Webb, J
- Vieri, F
Producer: 19990610
In:
American journal of medical genetics vol. 83
Availability: No items available.
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53.
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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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