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181.
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Relationship between age and IQ among fragile X males: a multicenter study. [electronic resource] by
- Fisch, G S
- Arinami, T
- Froster-Iskenius, U
- Fryns, J P
- Curfs, L M
- Borghgraef, M
- Howard-Peebles, P N
- Schwartz, C E
- Simensen, R J
- Shapiro, L R
Producer: 19910521
In:
American journal of medical genetics vol. 38
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182.
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Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome. [electronic resource] by
- Suthers, G K
- Mulley, J C
- Voelckel, M A
- Dahl, N
- Väisänen, M L
- Steinbach, P
- Glass, I A
- Schwartz, C E
- van Oost, B A
- Thibodeau, S N
Producer: 19910403
In:
American journal of human genetics vol. 48
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183.
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P63 mutations are not a major cause of non-syndromic split hand/foot malformation. [electronic resource] by
- de Mollerat, X J
- Everman, D B
- Morgan, C T
- Clarkson, K B
- Rogers, R C
- Colby, R S
- Aylsworth, A S
- Graham, J M
- Stevenson, R E
- Schwartz, C E
Producer: 20030221
In:
Journal of medical genetics vol. 40
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184.
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New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. [electronic resource] by
- de Alencastro, G
- McCloskey, D E
- Kliemann, S E
- Maranduba, C M C
- Pegg, A E
- Wang, X
- Bertola, D R
- Schwartz, C E
- Passos-Bueno, M R
- Sertié, A L
Producer: 20080919
In:
Journal of medical genetics vol. 45
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185.
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Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. [electronic resource] by
- Lyons, M J
- Graham, J M
- Neri, G
- Hunter, A G W
- Clark, R D
- Rogers, R C
- Moscarda, M
- Boccuto, L
- Simensen, R
- Dodd, J
- Robertson, S
- DuPont, B R
- Friez, M J
- Schwartz, C E
- Stevenson, R E
Producer: 20090205
In:
Journal of medical genetics vol. 46
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186.
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Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation. [electronic resource] by
- Friez, M J
- Essop, F B
- Krause, A
- Castiglia, L
- Ragusa, A
- Sossey-Alaoui, K
- Nelson, R L
- May, M M
- Michaelis, R C
- Srivastava, A K
- Schwartz, C E
- Stevenson, R E
- Goldman, A
- Villard, L
- Longshore, J W
Producer: 20000922
In:
Human genetics vol. 106
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187.
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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. [electronic resource] by
- Laumonnier, F
- Holbert, S
- Ronce, N
- Faravelli, F
- Lenzner, S
- Schwartz, C E
- Lespinasse, J
- Van Esch, H
- Lacombe, D
- Goizet, C
- Phan-Dinh Tuy, F
- van Bokhoven, H
- Fryns, J-P
- Chelly, J
- Ropers, H-H
- Moraine, C
- Hamel, B C J
- Briault, S
Producer: 20060724
In:
Journal of medical genetics vol. 42
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188.
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Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X). [electronic resource] by
- Basehore, M J
- Michaelson-Cohen, R
- Levy-Lahad, E
- Sismani, C
- Bird, L M
- Friez, M J
- Walsh, T
- Abidi, F
- Holloway, L
- Skinner, C
- McGee, S
- Alexandrou, A
- Syrrou, M
- Patsalis, P C
- Raymond, G
- Wang, T
- Schwartz, C E
- King, M-C
- Stevenson, R E
Producer: 20160104
In:
Clinical genetics vol. 87
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189.
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Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population. [electronic resource] by
- Crawford, D C
- Schwartz, C E
- Meadows, K L
- Newman, J L
- Taft, L F
- Gunter, C
- Brown, W T
- Carpenter, N J
- Howard-Peebles, P N
- Monaghan, K G
- Nolin, S L
- Reiss, A L
- Feldman, G L
- Rohlfs, E M
- Warren, S T
- Sherman, S L
Producer: 20000330
In:
American journal of human genetics vol. 66
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190.
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Novel dual acting molecules possessing 5-lipoxygenase enzyme inhibition and histamine H(1) receptor antagonist properties. [electronic resource] by
- Scannell, R T
- Arrington, M P
- Bayless, L
- Cai, X
- Eckman, J B
- Eckert, M
- Ene, D G
- Ellis, J L
- Hussoin, S
- Latham, G M
- Lewis, T A
- Libertine, L
- Nicolas, J
- Selig, W M
- Schwartz, C E
- Wels, B F
- Wypij, D M
- Young, M A
- Zou, D
Producer: 20050425
In:
Inflammation research : official journal of the European Histamine Research Society ... [et al.] vol. 53 Suppl 1
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191.
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Screen for MAOA mutations in target human groups. [electronic resource] by
- Schuback, D E
- Mulligan, E L
- Sims, K B
- Tivol, E A
- Greenberg, B D
- Chang, S F
- Yang, S L
- Mau, Y C
- Shen, C Y
- Ho, M S
- Yang, N H
- Butler, M G
- Fink, S
- Schwartz, C E
- Berlin, F
- Breakefield, X O
- Murphy, D L
- Hsu, Y P
Producer: 19990503
In:
American journal of medical genetics vol. 88
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192.
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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
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193.
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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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