Search | VHL CLAP/WR-PAHO/WHO

1.

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.

Palmer, Elizabeth E; Whitton, Chloe; Hashem, Mais O; Clark, Robin D; Ramanathan, Subhadra; Starr, Lois J; Velasco, Danita; De Dios, John Karl; Singh, Emily; Cormier-Daire, Valerie; Chopra, Maya; Rodan, Lance H; Nellaker, Christoffer; Lakhani, Shenela; Mallack, Eric J; Panzer, Karin; Sidhu, Alpa; Wentzensen, Ingrid M; Lacombe, Didier; Michaud, Vincent; Alkuraya, Fowzan S.

Clin Genet ; 100(4): 468-477, 2021 10.

Article in English | MEDLINE | ID: mdl-34212383

2.

Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype.

Singh, Emily; Chi, Young-In; Kopesky, Jessica; Zimmerman, Michael; Urrutia, Raul; Basel, Donald; Schwoerer, Jessica Scott.

JIMD Rep ; 65(3): 144-155, 2024 May.

Article in English | MEDLINE | ID: mdl-38736638

3.

Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.

Held, Patrice K; Singh, Emily; Scott Schwoerer, Jessica.

Int J Neonatal Screen ; 8(1)2022 Feb 07.

Article in English | MEDLINE | ID: mdl-35225935

4.

Prophylaxis for travelers' diarrhea.

Singh, Emily; Redfield, David.

Curr Gastroenterol Rep ; 11(4): 297-300, 2009 Aug.

Article in English | MEDLINE | ID: mdl-19615305

5.

An Autoimmune Protocol Diet Improves Patient-Reported Quality of Life in Inflammatory Bowel Disease.

Chandrasekaran, Anita; Groven, Shauna; Lewis, James D; Levy, Susan S; Diamant, Caroline; Singh, Emily; Konijeti, Gauree Gupta.

Crohns Colitis 360 ; 1(3): otz019, 2019 Oct.

Article in English | MEDLINE | ID: mdl-31832627

6.

Efficacy of the Autoimmune Protocol Diet for Inflammatory Bowel Disease.

Konijeti, Gauree G; Kim, NaMee; Lewis, James D; Groven, Shauna; Chandrasekaran, Anita; Grandhe, Sirisha; Diamant, Caroline; Singh, Emily; Oliveira, Glenn; Wang, Xiaoyun; Molparia, Bhuvan; Torkamani, Ali.

Inflamm Bowel Dis ; 23(11): 2054-2060, 2017 11.

Article in English | MEDLINE | ID: mdl-28858071

7.

Cannabinoid hyperemesis.

Singh, Emily; Coyle, Walter.

Am J Gastroenterol ; 103(4): 1048-9, 2008 Apr.

Article in English | MEDLINE | ID: mdl-18397435

8.

Colorectal cancer screening in women with endometrial cancer: are we following the guidelines?

Singh, Marvin Mohan; Singh, Emily; Miller, Heather; Strum, Williamson B; Coyle, Walter.

J Gastrointest Cancer ; 43(2): 190-5, 2012 Jun.

Article in English | MEDLINE | ID: mdl-21380941

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

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