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Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. [electronic resource] by
- Rafiq, M A
- Ansar, M
- Marshall, C R
- Noor, A
- Shaheen, N
- Mowjoodi, A
- Khan, M A
- Ali, G
- Amin-ud-Din, M
- Feuk, L
- Vincent, J B
- Scherer, S W
Producer: 20110217
In:
Clinical genetics vol. 78
Availability: No items available.
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38.
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Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. [electronic resource] by
- Peña-Padilla, C
- Marshall, C R
- Walker, S
- Scherer, S W
- Tavares-Macías, G
- Razo-Jiménez, G
- Bobadilla-Morales, L
- Acosta-Fernández, E
- Corona-Rivera, A
- Mendoza-Londono, R
- Corona-Rivera, J R
Producer: 20170630
In:
Clinical genetics vol. 91
Availability: No items available.
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39.
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Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. [electronic resource] by
- Carter, M T
- Nikkel, S M
- Fernandez, B A
- Marshall, C R
- Noor, A
- Lionel, A C
- Prasad, A
- Pinto, D
- Joseph-George, A M
- Noakes, C
- Fairbrother-Davies, C
- Roberts, W
- Vincent, J
- Weksberg, R
- Scherer, S W
Producer: 20120615
In:
Clinical genetics vol. 80
Availability: No items available.
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40.
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Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. [electronic resource] by
- Goobie, S
- Knijnenburg, J
- Fitzpatrick, D
- Sharkey, F H
- Lionel, A C
- Marshall, C R
- Azam, T
- Shago, M
- Chong, K
- Mendoza-Londono, R
- den Hollander, N S
- Ruivenkamp, C
- Maher, E
- Tanke, H J
- Szuhai, K
- Wintle, R F
- Scherer, S W
Producer: 20090327
In:
Cytogenetic and genome research vol. 123
Availability: No items available.
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