Babul-Hirji R - Search Results

1

Parental Preferences for Expanded Newborn Screening: What Are the Limits?

Liang NSY, Watts-Dickens A, Chitayat D, Babul-Hirji R, Chakraborty P, Hayeems RZ. Liang NSY, et al. Among authors: babul hirji r. Children (Basel). 2023 Aug 9;10(8):1362. doi: 10.3390/children10081362. Children (Basel). 2023. PMID: 37628361 Free PMC article.

2

Normal external genitalia in a female with classical congenital adrenal hyperplasia who was not treated during embryogenesis.

Quercia N, Chitayat D, Babul-Hirji R, New MI, Daneman D. Quercia N, et al. Prenat Diagn. 1998 Jan;18(1):83-5. doi: 10.1002/(sici)1097-0223(199801)18:1<83::aid-pd219>3.0.co;2-u. Prenat Diagn. 1998. PMID: 9483646

3

Genetic counselling in prenatally diagnosed non-chromosomal fetal abnormalities.

Chitayat D, Babul-Hirji R. Chitayat D, et al. Curr Opin Obstet Gynecol. 2000 Apr;12(2):77-80. doi: 10.1097/00001703-200004000-00004. Curr Opin Obstet Gynecol. 2000. PMID: 10813567 Review.

4

First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome.

Johnson JM, Babul-Hirji R, Chitayat D. Johnson JM, et al. Ultrasound Obstet Gynecol. 2001 Apr;17(4):344-6. doi: 10.1046/j.1469-0705.2001.00320.x. Ultrasound Obstet Gynecol. 2001. PMID: 11339194 Free article.

5

Cavum veli interpositi: prenatal diagnosis and postnatal outcome.

Shah PS, Blaser S, Toi A, Fong K, Glanc P, Babul-Hirji R, Rutka J, Chitayat D. Shah PS, et al. Prenat Diagn. 2005 Jul;25(7):539-42. doi: 10.1002/pd.1114. Prenat Diagn. 2005. PMID: 16034837

6

A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.

Georgiou DM, Nicolaou P, Chitayat D, Koutsou P, Babul-Hirji R, Vajsar J, Murphy J, Christodoulou K. Georgiou DM, et al. Can J Neurol Sci. 2006 Aug;33(3):311-6. doi: 10.1017/s0317167100005199. Can J Neurol Sci. 2006. PMID: 17001820

7

Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.

Gillis J, Burashnikov E, Antzelevitch C, Blaser S, Gross G, Turner L, Babul-Hirji R, Chitayat D. Gillis J, et al. Am J Med Genet A. 2012 Jan;158A(1):182-7. doi: 10.1002/ajmg.a.34355. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106044 Free PMC article.

8

XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.

Moalem S, Babul-Hirji R, Stavropolous DJ, Wherrett D, Bägli DJ, Thomas P, Chitayat D. Moalem S, et al. Am J Med Genet A. 2012 Jul;158A(7):1759-64. doi: 10.1002/ajmg.a.35390. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678921

9

Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.

Carter MT, Blaser S, Papsin B, Meschino W, Reardon W, Klatt R, Babul-Hirji R, Milunsky J, Chitayat D. Carter MT, et al. Am J Med Genet A. 2012 Aug;158A(8):1977-81. doi: 10.1002/ajmg.a.35436. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711382 Review.

10

Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.

Guerin A, Stavropoulos DJ, Diab Y, Chénier S, Christensen H, Kahr WH, Babul-Hirji R, Chitayat D. Guerin A, et al. Am J Med Genet A. 2012 Oct;158A(10):2551-6. doi: 10.1002/ajmg.a.35621. Epub 2012 Sep 10. Am J Med Genet A. 2012. PMID: 22965935

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