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Simona E Bianconi

Showing results (1-10 of 9) with videos related to

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Expert Opinion on Orphan Drugs|March 4, 2015
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz SyndromeSimona E Bianconi, Joanna L Cross, Christopher A Wassif, et al.
American Journal of Medical Genetics. Part A|December 12, 2017
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndromeAn N Dang Do, Eva H Baker, Katherine E Warren, et al.
American Journal of Medical Genetics. Part A|June 17, 2021
Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1Jorge L Rodriguez-Gil, Simona E Bianconi, Nicole Farhat, et al.
American Journal of Medical Genetics. Part A|October 13, 2011
Adrenal function in Smith-Lemli-Opitz syndromeSimona E Bianconi, Sandra K Conley, Meg F Keil, et al.
Molecular Genetics and Metabolism|March 10, 2019
Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural historySimona E Bianconi, Dylan I Hammond, Nicole Y Farhat, et al.
American Journal of Medical Genetics. Part A|May 6, 2016
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patientsStephanie M Cologna, Christine Shieh, Cynthia L Toth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2020
Neurofilament light chain levels correlate with clinical measures in CLN3 diseaseAn N Dang Do, Ninet Sinaii, Ruturaj R Masvekar, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 6, 2009
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type CNicole M Yanjanin, Jorge I Vélez, Andrea Gropman, et al.
European Journal of Human Genetics : EJHG|April 2, 2024
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsySamin A Sajan, Ralph Gradisch, Florian D Vogel, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Expert Opinion on Orphan Drugs|March 4, 2015
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz SyndromeSimona E Bianconi, Joanna L Cross, Christopher A Wassif, et al.
American Journal of Medical Genetics. Part A|December 12, 2017
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndromeAn N Dang Do, Eva H Baker, Katherine E Warren, et al.
American Journal of Medical Genetics. Part A|June 17, 2021
Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1Jorge L Rodriguez-Gil, Simona E Bianconi, Nicole Farhat, et al.
American Journal of Medical Genetics. Part A|October 13, 2011
Adrenal function in Smith-Lemli-Opitz syndromeSimona E Bianconi, Sandra K Conley, Meg F Keil, et al.
Molecular Genetics and Metabolism|March 10, 2019
Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural historySimona E Bianconi, Dylan I Hammond, Nicole Y Farhat, et al.
American Journal of Medical Genetics. Part A|May 6, 2016
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patientsStephanie M Cologna, Christine Shieh, Cynthia L Toth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2020
Neurofilament light chain levels correlate with clinical measures in CLN3 diseaseAn N Dang Do, Ninet Sinaii, Ruturaj R Masvekar, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 6, 2009
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type CNicole M Yanjanin, Jorge I Vélez, Andrea Gropman, et al.
European Journal of Human Genetics : EJHG|April 2, 2024
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsySamin A Sajan, Ralph Gradisch, Florian D Vogel, et al.
Pageof 1