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Items: 1 to 20 of 76813

1.

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Blanco-Kelly F, Palomares M, Vallespín E, Villaverde C, Martín-Arenas R, Vélez-Monsalve C, Lorda-Sánchez I, Nevado J, Trujillo-Tiebas MJ, Lapunzina P, Ayuso C, Corton M.

PLoS One. 2017 Feb 23;12(2):e0172363. doi: 10.1371/journal.pone.0172363.

2.

Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing.

Zhang JY, Chen SC, Chen YY, Li SY, Zhang LL, Shen YH, Chang CX, Xiang YQ, Huang HF, Xu CM.

PLoS One. 2017 Feb 23;12(2):e0172173. doi: 10.1371/journal.pone.0172173.

3.

Near Real-Time Surveillance of U.S. Norovirus Outbreaks by the Norovirus Sentinel Testing and Tracking Network - United States, August 2009-July 2015.

Shah MP, Wikswo ME, Barclay L, Kambhampati A, Shioda K, Parashar UD, Vinjé J, Hall AJ.

MMWR Morb Mortal Wkly Rep. 2017 Feb 24;66(7):185-189. doi: 10.15585/mmwr.mm6607a1.

4.

Genetic effects in children exposed in prenatal period to ionizing radiation after the Chornobyl nuclear power plant accident.

Stepanova YI, Vdovenko VY, Misharina ZA, Kolos VI, Mischenko LP.

Exp Oncol. 2016 Dec;38(4):272-275.

PMID:
28230829
5.

Update on the 22q11.2 deletion syndrome and its relevance to schizophrenia.

Van L, Boot E, Bassett AS.

Curr Opin Psychiatry. 2017 Feb 21. doi: 10.1097/YCO.0000000000000324. [Epub ahead of print]

PMID:
28230630
6.

Serum phosphatidylinositol as a biomarker for bipolar disorder liability.

Knowles EE, Meikle PJ, Huynh K, Göring HH, Olvera RL, Mathias SR, Duggirala R, Almasy L, Blangero J, Curran JE, Glahn DC.

Bipolar Disord. 2017 Feb 23. doi: 10.1111/bdi.12468. [Epub ahead of print]

PMID:
28230325
7.

Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia.

Lee YC, Song IW, Pai YJ, Chen SD, Chen YT.

Sci Rep. 2017 Feb 23;7:43220. doi: 10.1038/srep43220.

8.

Genetic architecture of seed longevity in bread wheat (Triticum aestivum L.).

Arif MA, Nagel M, Lohwasser U, Borner A.

J Biosci. 2017 Mar;42(1):81-89.

9.

Genetic testing helps to confirm the diagnosis and initiate appropriate treatment, a case of Liddle syndrome.

Pichurin PN, Schwartz GL.

J Am Soc Hypertens. 2017 Jan 25. pii: S1933-1711(17)30003-7. doi: 10.1016/j.jash.2017.01.003. [Epub ahead of print] No abstract available.

PMID:
28229899
10.

A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.

Abdel-Hamid MS, Issa MY, Otaify GA, Zaki MS.

Metab Brain Dis. 2017 Feb 22. doi: 10.1007/s11011-017-9971-x. [Epub ahead of print]

PMID:
28229379
11.

"Set in Stone" or "Ray of Hope": Parents' Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD.

Reiff M, Bugos E, Giarelli E, Bernhardt BA, Spinner NB, Sankar PL, Mulchandani S.

J Autism Dev Disord. 2017 Feb 22. doi: 10.1007/s10803-017-3067-7. [Epub ahead of print]

PMID:
28229350
12.

Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

Maignan A, Guerin C, Julliard V, Paladino NC, Kim E, Roche P, Castinetti F, Essamet W, Mancini J, Imperiale A, Clifton-Bligh R, Romanet P, Barlier A, Pacak K, Sebag F, Taïeb D.

Langenbecks Arch Surg. 2017 Feb 22. doi: 10.1007/s00423-017-1564-y. [Epub ahead of print]

PMID:
28229225
13.

Abnormal Auditory Brainstem Response (ABR) Findings in a Near-Normal Hearing Child with Noonan Syndrome.

Jalaei B, Zakaria MN, Sidek D.

Iran J Otorhinolaryngol. 2017 Jan;29(90):53-57.

PMID:
28229064
14.

The Sudden Death in the Young Case Registry: Collaborating to Understand and Reduce Mortality.

Burns KM, Bienemann L, Camperlengo L, Cottengim C, Covington TM, Dykstra H, Faulkner M, Kobau R, Erck Lambert AB, MacLeod H, Parks SE, Rosenberg E, Russell MW, Shapiro-Mendoza CK, Shaw E, Tian N, Whittemore V, Kaltman JR; Sudden Death in the Young Case Registry Steering Committee..

Pediatrics. 2017 Feb 22. pii: e20162757. doi: 10.1542/peds.2016-2757. [Epub ahead of print]

PMID:
28228502
15.

Label-free detection of sex determining region Y (SRY) via capacitive biosensor.

Sivashankar S, Sapsanis C, Agambayev S, Buttner U, Salama KN, Sivashankar S, Sapsanis C, Agambayev S, Buttner U, Salama KN, Salama KN, Sivashankar S, Agambayev S, Sapsanis C, Buttner U.

Conf Proc IEEE Eng Med Biol Soc. 2016 Aug;2016:4349-4352. doi: 10.1109/EMBC.2016.7591690.

PMID:
28227475
16.

Learning approaches to improve prediction of drug sensitivity in breast cancer patients.

Turki T, Wei Z, Turki T, Zhi Wei, Turki T, Wei Z.

Conf Proc IEEE Eng Med Biol Soc. 2016 Aug;2016:3314-3320. doi: 10.1109/EMBC.2016.7591437.

PMID:
28227226
17.

Integration of SNPs-FMRI-methylation data with sparse multi-CCA for schizophrenia study.

Hu W, Lin D, Calhoun VD, Wang YP, Wenxing Hu, Dongdong Lin, Calhoun VD, Yu-Ping Wang, Calhoun VD, Wang YP, Hu W, Lin D.

Conf Proc IEEE Eng Med Biol Soc. 2016 Aug;2016:3310-3313. doi: 10.1109/EMBC.2016.7591436.

PMID:
28227225
18.

Committee Opinion No. 691: Carrier Screening for Genetic Conditions.

[No authors listed]

Obstet Gynecol. 2017 Mar;129(3):e41-e55. doi: 10.1097/AOG.0000000000001952.

PMID:
28225426
19.

Committee Opinion No. 691 Summary: Carrier Screening for Genetic Conditions.

[No authors listed]

Obstet Gynecol. 2017 Mar;129(3):597-599. doi: 10.1097/AOG.0000000000001948.

PMID:
28225421
20.

Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine.

[No authors listed]

Obstet Gynecol. 2017 Mar;129(3):595-596. doi: 10.1097/AOG.0000000000001947.

PMID:
28225420
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