Kylat RI - Search Results

1

22q11.2 Microduplication: An Enigmatic Genetic Disorder.

Kylat RI. Kylat RI. J Pediatr Genet. 2018 Sep;7(3):138-142. doi: 10.1055/s-0038-1655754. Epub 2018 May 18. J Pediatr Genet. 2018. PMID: 30105124 Free PMC article.

2

What Is the Teratogenic Risk of Mycophenolate?

Kylat RI. Kylat RI. J Pediatr Genet. 2017 Jun;6(2):111-114. doi: 10.1055/s-0036-1597933. Epub 2017 Jan 2. J Pediatr Genet. 2017. PMID: 28497000 Free PMC article.

3

Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature.

Kylat RI. Kylat RI. J Pediatr Genet. 2017 Jun;6(2):122-125. doi: 10.1055/s-0036-1597930. Epub 2017 Jan 2. J Pediatr Genet. 2017. PMID: 28497003 Free PMC article.

4

Genetic Characterization of a Model Ciliopathy: Bardet-Biedl Syndrome.

Kops SA, Kylat RI, Bhatia S, Seckeler MD, Barber BJ, Bader MY. Kops SA, et al. Among authors: kylat ri. J Pediatr Genet. 2021 Jun;10(2):126-130. doi: 10.1055/s-0040-1708844. Epub 2020 Mar 31. J Pediatr Genet. 2021. PMID: 33996183 Free PMC article.

5

A Truncating Variant of CHRNG as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype.

Sandweiss AJ, Patel S, Bader MY, Kylat RI. Sandweiss AJ, et al. Among authors: kylat ri. J Pediatr Genet. 2020 Aug 26;11(2):144-146. doi: 10.1055/s-0040-1715640. eCollection 2022 Jun. J Pediatr Genet. 2020. PMID: 35769964 Free PMC article.

6

Personalized precision medicine in extreme preterm infants with transient neonatal diabetes mellitus.

Kylat RI, Senguttuvan R, Bader MY. Kylat RI, et al. J Pediatr Endocrinol Metab. 2017 May 1;30(5):593-596. doi: 10.1515/jpem-2016-0261. J Pediatr Endocrinol Metab. 2017. PMID: 28350539

7

Resolution of Protein-Losing Enteropathy after Congenital Heart Disease Repair by Selective Lymphatic Embolization.

Kylat RI, Witte MH, Barber BJ, Dori Y, Ghishan FK. Kylat RI, et al. Pediatr Gastroenterol Hepatol Nutr. 2019 Nov;22(6):594-600. doi: 10.5223/pghn.2019.22.6.594. Epub 2019 Nov 7. Pediatr Gastroenterol Hepatol Nutr. 2019. PMID: 31777727 Free PMC article.

8

Peter's anomaly-A homeotic gene disorder.

Kylat RI. Kylat RI. Acta Paediatr. 2022 May;111(5):948-951. doi: 10.1111/apa.16260. Epub 2022 Jan 31. Acta Paediatr. 2022. PMID: 35044009 Review.

9

Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome due to a mutation in FOXP3, modified by a pathogenic variant in SON (SON DNA-binding protein).

Kylat RI, Stanley K, Simon S, Erickson RP. Kylat RI, et al. J Appl Genet. 2023 Feb;64(1):141-144. doi: 10.1007/s13353-022-00728-6. Epub 2022 Sep 30. J Appl Genet. 2023. PMID: 36175752

10

Unique Case of Congenital Duodenal Atresia and a Choledochal Cyst and the Hypothesis of Their Embryological Evolution.

Downing B, Bader MY, Morello FP, Kylat RI. Downing B, et al. Among authors: kylat ri. Children (Basel). 2020 Aug 18;7(8):99. doi: 10.3390/children7080099. Children (Basel). 2020. PMID: 32824642 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

36 results

Search Page