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Items: 1 to 20 of 389


Frequency of HLA-DQ, susceptibility genotypes for celiac disease, in Brazilian newborns.

Almeida FC, Gandolfi L, Costa KN, Picanço MRA, Almeida LM, Nóbrega YKM, Pratesi R, Pratesi CB, Selleski N.

Mol Genet Genomic Med. 2018 Jul 16. doi: 10.1002/mgg3.444. [Epub ahead of print]


Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Kopp ND, Parrish PCR, Lugo M, Dougherty JD, Kozel BA.

Mol Genet Genomic Med. 2018 Jul 15. doi: 10.1002/mgg3.429. [Epub ahead of print]


Incomplete methylation of a germ cell tumor (Seminoma) in a Prader-Willi male.

Eldar-Geva T, Gross-Tsur V, Hirsch HJ, Altarescu G, Segal R, Zeligson S, Golomb E, Epsztejn-Litman S, Eiges R.

Mol Genet Genomic Med. 2018 Jul 12. doi: 10.1002/mgg3.448. [Epub ahead of print]


Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.

Sproll P, Eid W, Gomes CR, Mendonca BB, Gomes NL, Costa EM, Biason-Lauber A.

Mol Genet Genomic Med. 2018 Jul 11. doi: 10.1002/mgg3.445. [Epub ahead of print]


Nearly complete genome sequence of one GII.17 Norovirus identified by direct sequencing from HuZhou, China.

Ji L, Chen L, Xu D, Wu X, Han J.

Mol Genet Genomic Med. 2018 Jul 10. doi: 10.1002/mgg3.446. [Epub ahead of print]


Identification and functional annotation of metabolism-associated lncRNAs and their related protein-coding genes in gastric cancer.

Mo X, Li T, Xie Y, Zhu L, Xiao B, Liao Q, Guo J.

Mol Genet Genomic Med. 2018 Jul 10. doi: 10.1002/mgg3.427. [Epub ahead of print]


A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Yang J, Wang Q, Zhuo Q, Tian H, Li W, Luo F, Zhang J, Bi D, Peng J, Zhou D, Xin H.

Mol Genet Genomic Med. 2018 Jul 4. doi: 10.1002/mgg3.428. [Epub ahead of print]


Signs indicating dementia in Down, Williams and Fragile X syndromes.

Sauna-Aho O, Bjelogrlic-Laakso N, Siren A, Arvio M.

Mol Genet Genomic Med. 2018 Jul 3. doi: 10.1002/mgg3.430. [Epub ahead of print]


Establishment of the Alabama Hereditary Cancer Cohort - strategies for the inclusion of underrepresented populations in cancer genetics research.

Bishop MR, Shah A, Shively M, Huskey ALW, Omeler SM, Bilgili EP, Jackson E, Daniell K, Stallworth E, Spina S, Shepp K, Bergstresser S, Davis A, Dean H, Gibson J, Johnson B, Merner ND.

Mol Genet Genomic Med. 2018 Jul 1. doi: 10.1002/mgg3.443. [Epub ahead of print]


Collaborations in medical genetics: 10-year history of an ongoing Vietnamese-North American Collaboration.

[No authors listed]

Mol Genet Genomic Med. 2018 May;6(3):470. doi: 10.1002/mgg3.424. No abstract available.


Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia.

Pawlikowska L, Nelson J, Guo DE, McCulloch CE, Lawton MT, Kim H, Faughnan ME; Brain Vascular Malformation Consortium HHT Investigator Group.

Mol Genet Genomic Med. 2018 May;6(3):350-356. doi: 10.1002/mgg3.377. Epub 2018 Mar 6.


Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

[No authors listed]

Mol Genet Genomic Med. 2018 May;6(3):469. doi: 10.1002/mgg3.418. No abstract available.


Medical genetics and genomic medicine in Nigeria.

Adeyemo AA, Amodu OK, Ekure EE, Omotade OO.

Mol Genet Genomic Med. 2018 May;6(3):314-321. doi: 10.1002/mgg3.419. Epub 2018 Jun 5. No abstract available.


Pharmacogenomics: From classroom to practice.

Nutter SC, Gálvez-Peralta M.

Mol Genet Genomic Med. 2018 May;6(3):307-313. doi: 10.1002/mgg3.417. Epub 2018 May 31.


The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia.

Elliott AM, du Souich C, Adam S, Dragojlovic N, van Karnebeek C, Nelson TN, Lehman A; CAUSES Study, Lynd LD, Friedman JM.

Mol Genet Genomic Med. 2018 May 30. doi: 10.1002/mgg3.410. [Epub ahead of print]


Genetics in mainstream medicine: Finally within grasp to influence healthcare globally.

Aradhya S, Nussbaum RL.

Mol Genet Genomic Med. 2018 May 28. doi: 10.1002/mgg3.415. [Epub ahead of print]


Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1.

Kehrer-Sawatzki H, Kordes U, Seiffert S, Summerer A, Hagel C, Schüller U, Farschtschi S, Schneppenheim R, Bendszus M, Godel T, Mautner VF.

Mol Genet Genomic Med. 2018 May 20. doi: 10.1002/mgg3.412. [Epub ahead of print]


Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.

Javadiyan S, Lucas SEM, Wangmo D, Ngy M, Edussuriya K, Craig JE, Rudkin A, Casson R, Selva D, Sharma S, Lower KM, Meucke J, Burdon KP.

Mol Genet Genomic Med. 2018 May 16. doi: 10.1002/mgg3.406. [Epub ahead of print]

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