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Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature.
- Published in:
- Journal of Child Neurology, 2019, v. 34, n. 2, p. 86, doi. 10.1177/0883073818811454
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- Article
The Chromosomal Polymorphism Linked to Variation in Social Behavior in the White-Throated Sparrow (Zonotrichia albicollis) Is a Complex Rearrangement and Suppressor of Recombination.
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- Genetics, 2008, v. 179, n. 3, p. 1455, doi. 10.1534/genetics.108.088229
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- Article
Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1795, doi. 10.1002/ajmg.a.36524
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- Article
L1CAM whole gene deletion in a child with L1 syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1555, doi. 10.1002/ajmg.a.36474
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- Article
Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1094, doi. 10.1002/ajmg.a.36453
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- Article
Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2871, doi. 10.1002/ajmg.a.34286
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- Article
P1-268: Differential FMRI activity in response to novel emotional faces in individuals with mild cognitive impairment versus elderly controls
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- 2008
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- Publication type:
- Abstract
IC-P2-119: Differential fMRI activity in response to novel emotional faces in individuals with mild cognitive impairment versus elderly controls
- Published in:
- 2008
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- Abstract
POU2AF3‐rearranged sarcomas: A novel tumor defined by fusions of EWSR1 or FUS to a gene formerly designated COLCA2.
- Published in:
- Genes, Chromosomes & Cancer, 2023, v. 62, n. 8, p. 460, doi. 10.1002/gcc.23136
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- Article
Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study.
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- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0111512
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- Article
Deaf Adults’ Reasons for Genetic Testing Depend on Cultural Affiliation: Results From a Prospective, Longitudinal Genetic Counseling and Testing Study.
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- Journal of Deaf Studies & Deaf Education, 2010, v. 15, n. 3, p. 209, doi. 10.1093/deafed/enq012
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- Article
Clinical Utility of Chromosomal Microarray Analysis of DNA from Buccal Cells: Detection of Mosaicism in Three Patients.
- Published in:
- Journal of Genetic Counseling, 2014, v. 23, n. 6, p. 922, doi. 10.1007/s10897-014-9751-2
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- Article
Deaf Genetic Testing and Psychological Well-Being in Deaf Adults.
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- Journal of Genetic Counseling, 2013, v. 22, n. 4, p. 492, doi. 10.1007/s10897-013-9573-7
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- Article
Effect of Pre-test Genetic Counseling for Deaf Adults on Knowledge of Genetic Testing.
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- Journal of Genetic Counseling, 2012, v. 21, n. 2, p. 256, doi. 10.1007/s10897-011-9398-1
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- Article
Transient Leukoencephalopathy Associated With X-Linked Charcot-Marie-Tooth Disease.
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- Journal of Child Neurology, 2010, v. 25, n. 8, p. 1013, doi. 10.1177/0883073809352378
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- Article
B-Acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.
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- Pediatric Blood & Cancer, 2011, v. 56, n. 3, p. 470, doi. 10.1002/pbc.22909
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- Article