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발행년	- (예 : 2010-2015)

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy

Academic Journal

Sajan, S.A.; Gradisch, R.; Clarke, A.; Stockner, T.; Vogel, F.D.; Ernst, M.; Coffey, A.J.; Kesari, A.; Salyakina, D.; Soler, D.; Jayakar, P.; Jayakar, A.; Bianconi, S.E.; Cooper, A.H.; Liu, S.; William, N.; Benkel-Herrenbrück, I.; Maiwald, R.; Heller, C.; Biskup, S.; Leiz, S.; Westphal, D.S.; Wagner, M.; Krenn, M.

In: European Journal of Human Genetics. (European Journal of Human Genetics, August 2024, 32(8):912-919)

Web of Science JCR 저널정보 Scopus Find it@PNU

Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1

Academic Journal

Rodriguez-Gil, J.L.; Bianconi, S.E.; Farhat, N.; Porter, F.D.; Kleiner, D.E.; Nelson, M.

In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, October 2021, 185(10):3111-3117)

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

Neurofilament light chain levels correlate with clinical measures in CLN3 disease

Academic Journal

Dang Do, A.N.; Bianconi, S.E.; Porter, F.D.; Sinaii, N.; Masvekar, R.R.; Bielekova, B.; Baker, E.H.; Thurm, A.E.; Soldatos, A.G.

In: Genetics in Medicine. (Genetics in Medicine, April 2021, 23(4):751-757)

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Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history

Academic Journal

Bianconi, S.E.; Hammond, D.I.; Farhat, N.Y.; Dang Do, A.; Jenkins, K.; Cougnoux, A.; Martin, K.; Porter, F.D.

In: Molecular Genetics and Metabolism. (Molecular Genetics and Metabolism, April 2019, 126(4):466-469)

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Spontaneously regressing brain lesions in Smith–Lemli–Opitz syndrome

Academic Journal

Dang Do, A.N.; Bianconi, S.E.; Porter, F.D.; Baker, E.H.; Warren, K.E.

In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, February 2018, 176(2):386-390)

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Altered cerebrospinal fluid proteins in Smith–Lemli–Opitz syndrome patients

Academic Journal

Cologna, S.M.; Shieh, C.; Toth, C.L.; Cougnoux, A.; Burkert, K.R.; Bianconi, S.E.; Wassif, C.A.; Porter, F.D.

In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, 1 August 2016, 170(8):2060-2068)

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Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith-Lemli-Opitz syndrome

Academic Journal

Bianconi, S.E.; Cross, J.L.; Wassif, C.A.; Porter, F.D.

In: Expert Opinion on Orphan Drugs. (Expert Opinion on Orphan Drugs, 1 March 2015, 3(3):267-280)

Web of Science JCR 저널정보 Scopus Find it@PNU

Adrenal function in Smith-Lemli-Opitz syndrome

Academic Journal

Bianconi, S.E.; Conley, S.K.; Keil, M.F.; Porter, F.D.; Stratakis, C.A.; Sinaii, N.; Rother, K.I.

In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, November 2011, 155(11):2732-2738)

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Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

Academic Journal

Yanjanin, N.M.; Bianconi, S.E.; Conley, S.K.; Porter, F.D.; Vélez, J.I.; Gropman, A.; King, K.; Brewer, C.C.; Solomon, B.; Pavan, W.J.; Arcos-Burgos, M.; Patterson, M.C.

In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. (American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, January 2010, 153(1):132-140)

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