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Items: 9

1.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H.

Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28.

2.

Investigation of the Use of a Family Health History Application in Genetic Counseling.

Tipsword ML, White PS, Spaeth CG, Ittenbach RF, Myers MF.

J Genet Couns. 2018 Apr;27(2):392-405. doi: 10.1007/s10897-017-0196-2. Epub 2017 Dec 22.

PMID:
29274073
3.

Epilepsy prevalence and severity predictors in MRI-identified focal cortical dysplasia.

Maynard LM, Leach JL, Horn PS, Spaeth CG, Mangano FT, Holland KD, Miles L, Faist R, Greiner HM.

Epilepsy Res. 2017 May;132:41-49. doi: 10.1016/j.eplepsyres.2017.03.001. Epub 2017 Mar 6.

PMID:
28288357
4.

Pediatric Epilepsy Surgery: The Prognostic Value of Central Nervous System Comorbidities in Patients and their Families

Qualmann KJ, Spaeth CG, Myers MF, Horn PS, Holland K, Mangano FT, Greiner HM.

J Child Neurol. 2017 Apr;32(5):467-474. doi: 10.1177/0883073816685653. Epub 2017 Jan 6.

5.

A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy.

Vawter-Lee MM, Hallinan BE, Burrow TA, Spaeth CG, Arthur TM.

JIMD Rep. 2015;24:97-102. doi: 10.1007/8904_2015_446. Epub 2015 May 13.

6.

The Clinical Utility of a Single-Nucleotide Polymorphism Microarray in Patients With Epilepsy at a Tertiary Medical Center.

Hrabik SA, Standridge SM, Greiner HM, Neilson DE, Pilipenko VV, Zimmerman SL, Connor JA, Spaeth CG.

J Child Neurol. 2015 Nov;30(13):1770-7. doi: 10.1177/0883073815579972. Epub 2015 Apr 10.

PMID:
25862739
7.

Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomes.

Patek KJ, Kline-Fath BM, Hopkin RJ, Pilipenko VV, Crombleholme TM, Spaeth CG.

Prenat Diagn. 2012 Jan;32(1):75-82. doi: 10.1002/pd.2911.

PMID:
22367673
8.

Severe cervical scoliosis in the fetus.

Prada CE, Sellars EA, Spaeth CG, Kline-Fath BM, Crombleholme TM, Hopkin RJ.

Prenat Diagn. 2011 Dec;31(12):1198-202. doi: 10.1002/pd.2898. Epub 2011 Oct 26.

PMID:
22031186
9.

Binding and in vitro activities of peptides with high affinity for the nociceptin/orphanin FQ receptor, ORL1.

Dooley CT, Spaeth CG, Berzetei-Gurske IP, Craymer K, Adapa ID, Brandt SR, Houghten RA, Toll L.

J Pharmacol Exp Ther. 1997 Nov;283(2):735-41.

PMID:
9353393

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