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Mozhgan Sabbaghian Selected Research

Johanson Blizzard syndrome

2/2011Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.
2/2011Eponym: Johanson-Blizzard syndrome.

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Mozhgan Sabbaghian Research Topics

Disease

2Johanson Blizzard syndrome
02/2011 - 02/2011
1Autoimmune Hypothyroidism
11/2012
1Autoimmune Hepatitis
11/2012
1Diabetes Mellitus
11/2012
1Retinitis Pigmentosa (Pigmentary Retinopathy)
04/2011
1Abetalipoproteinemia (Bassen Kornzweig Syndrome)
04/2011
1Abdominal Pain (Pain, Abdominal)
12/2010
1Fecal Incontinence
12/2010
1Constipation
12/2010

Drug/Important Bio-Agent (IBA)

1Sulfasalazine (Azulfidine)FDA LinkGeneric
11/2012
1Lipoproteins (Lipoprotein)IBA
04/2011
1Nonsense Codon (Nonsense Mutation)IBA
02/2011
1Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA
02/2011
1Therapeutic UsesIBA
12/2010
1PrebioticsIBA
12/2010

Therapy/Procedure

1Therapeutics
11/2012
1Aftercare (After-Treatment)
12/2010