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Author/Creator Jain, Preti

1. 25 MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSS. (18th January 2018)

Authors:
Kelsen, Judith R; Ouahed, Jodie; Spessott, Waldo A; Kooshesh, Kameron; Sanmillan, Maria L; Dawany, Noor; Sullivan, Kathleen E; Hamilton, Kathryn; Slowik, Voytek; Nejentsev, Sergey; Neves, João Farela; Flores, Helena; Chung, Wendy K; Wilson, Ashley; Yeboa, Kwame Anyane; Wou, Karen; Jain, Preti; To...
Journal:
Inflammatory bowel diseases
Issue:
Volume 24(2018)Supplement 1
Page Start:
S28
Record Type:
Journal Article
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2. D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. Issue 1 (8th October 2021)

Authors:
Werner, Kelly M.; Cox, Allison J.; Qian, Emily; Jain, Preti; Ji, Weizhen; Tikhonova, Irina; Castaldi, Christopher; Bilguvar, Kaya; Knight, James; Ferdinandusse, Sacha; Fawaz, Rima; Jiang, Yong‐Hui; Gallagher, Patrick G.; Bizzarro, Matthew; Gruen, Jeffrey R.; Bale, Allen; Zhang, Hui
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 1(2022)
Page Start:
357
Record Type:
Journal Article
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3. Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation. Issue 7 (October 2016)

Authors:
Glasser, Chana L.; Picoraro, Joseph A.; Jain, Preti; Kinberg, Sivan; Rustia, Evelyn; Gross Margolis, Kara; Anyane-Yeboa, Kwame; Iglesias, Alejandro D.; Green, Nancy S.
Journal:
Journal of pediatric hematology/oncology
Issue:
Volume 38:Issue 7(2016)
Page Start:
Record Type:
Journal Article
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4. Targeted next generation sequencing of breast implant‐associated anaplastic large cell lymphoma reveals mutations in JAK/STAT signalling pathway genes, TP53 and DNMT3A. (10th November 2016)

Authors:
Di Napoli, Arianna; Jain, Preti; Duranti, Enrico; Margolskee, Elizabeth; Arancio, Walter; Facchetti, Fabio; Alobeid, Bachir; Santanelli di Pompeo, Fabio; Mansukhani, Mahesh; Bhagat, Govind
Journal:
British journal of haematology
Issue:
Volume 180:Number 5(2018)
Page Start:
741
Record Type:
Journal Article
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5. Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation. (23rd April 2021)

Authors:
Ouahed, Jodie; Kelsen, Judith R; Spessott, Waldo A; Kooshesh, Kameron; Sanmillan, Maria L; Dawany, Noor; Sullivan, Kathleen E; Hamilton, Kathryn E; Slowik, Voytek; Nejentsev, Sergey; Neves, João Farela; Flores, Helena; Chung, Wendy K; Wilson, Ashley; Anyane-Yeboa, Kwame; Wou, Karen; Jain, Preti; ...
Journal:
Journal of Crohn's and colitis
Issue:
Volume 15:Number 11(2021)
Page Start:
1908
Record Type:
Journal Article
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