Results
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Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. [electronic resource] by
- Villard, L
- Lévy, N
- Xiang, F
- Kpebe, A
- Labelle, V
- Chevillard, C
- Zhang, Z
- Schwartz, C E
- Tardieu, M
- Chelly, J
- Anvret, M
- Fontès, M
Producer: 20011205
In:
Journal of medical genetics vol. 38
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164.
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167.
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168.
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169.
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170.
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The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome. [electronic resource] by
- Shashi, V
- Xie, P
- Schoch, K
- Goldstein, D B
- Howard, T D
- Berry, M N
- Schwartz, C E
- Cronin, K
- Sliwa, S
- Allen, A
- Need, A C
Producer: 20160627
In:
Clinical genetics vol. 88
Availability: No items available.
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171.
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172.
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Longitudinal changes in IQ among fragile X males: clinical evidence of more than one mutation? [electronic resource] by
- Fisch, G S
- Shapiro, L R
- Simensen, R
- Schwartz, C E
- Fryns, J P
- Borghgraef, M
- Curfs, L M
- Howard-Peebles, P N
- Arinami, T
- Mavrou, A
Producer: 19920716
In:
American journal of medical genetics vol. 43
Availability: No items available.
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173.
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Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines. [electronic resource] by
- Suthers, G K
- Hyland, V J
- Callen, D F
- Oberle, I
- Rocchi, M
- Thomas, N S
- Morris, C P
- Schwartz, C E
- Schmidt, M
- Ropers, H H
Producer: 19900904
In:
American journal of human genetics vol. 47
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174.
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175.
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Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. [electronic resource] by
- Schwartz, C E
- Johnson, J P
- Holycross, B
- Mandeville, T M
- Sears, T S
- Graul, E A
- Carey, J C
- Schroer, R J
- Phelan, M C
- Szollar, J
Producer: 19881201
In:
American journal of human genetics vol. 43
Availability: No items available.
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176.
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Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism. [electronic resource] by
- Bhat, S S
- Ladd, S
- Grass, F
- Spence, J E
- Brasington, C K
- Simensen, R J
- Schwartz, C E
- Dupont, B R
- Stevenson, R E
- Srivastava, A K
Producer: 20080229
In:
Clinical genetics vol. 73
Availability: No items available.
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177.
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Relationships between the human pepsinogen DNA and protein polymorphisms. [electronic resource] by
- Taggart, R T
- Samloff, I M
- Raffel, L J
- Graham, A
- Cass, C
- Petersen, G M
- Rotter, J I
- Skolnick, M H
- Schwartz, C E
- Bell, G I
Producer: 19860818
In:
American journal of human genetics vol. 38
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178.
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Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations. [electronic resource] by
- Kumar, R A
- Leach, S
- Bonaguro, R
- Chen, J
- Yokom, D W
- Abrahams, B S
- Seaver, L
- Schwartz, C E
- Dobyns, W
- Brooks-Wilson, A
- Simpson, E M
Producer: 20071106
In:
Genes, brain, and behavior vol. 6
Availability: No items available.
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179.
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Linkage homogeneity near the fragile X locus in normal and fragile X families. [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: 19911017
In:
Genomics vol. 10
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180.
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Fragile X syndrome: incidence, clinical and cytogenetic findings in the black and white populations of South Carolina. [electronic resource] by
- Schwartz, C E
- Phelan, M C
- Pulliam, L H
- Wilkes, G
- Vanner, L V
- Albiez, K L
- Potts, W A
- Rogers, R C
- Schroer, R J
- Saul, R A
Producer: 19881108
In:
American journal of medical genetics vol. 30
Availability: No items available.
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