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Items: 17

1.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S.

Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10.

2.

A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1.

Kharbanda M, Hermanns P, Jones J, Pohlenz J, Horrocks I, Donaldson M.

Eur J Med Genet. 2017 May;60(5):257-260. doi: 10.1016/j.ejmg.2017.03.001. Epub 2017 Mar 7.

PMID:
28286255
3.

Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.

Kharbanda M, Hunter A, Tennant S, Moore D, Curtis S, Hancox JC, Murday V.

Eur J Med Genet. 2017 May;60(5):233-238. doi: 10.1016/j.ejmg.2017.02.003. Epub 2017 Feb 27.

PMID:
28249770
4.

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

Kharbanda M, Pilz DT, Tomkins S, Chandler K, Saggar A, Fryer A, McKay V, Louro P, Smith JC, Burn J, Kini U, De Burca A, FitzPatrick DR, Kinning E; DDD Study.

Eur J Med Genet. 2017 Feb;60(2):130-135. doi: 10.1016/j.ejmg.2016.11.008. Epub 2016 Nov 30.

5.

A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH).

Narayanan VK, Kharbanda M, Donaldson M.

J Pediatr Endocrinol Metab. 2016 Dec 1;29(12):1407-1412. doi: 10.1515/jpem-2016-0182.

PMID:
27824615
6.

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.

Kharbanda M, Kannike K, Lampe A, Berg J, Timmusk T, Sepp M.

Eur J Med Genet. 2016 Jun;59(6-7):310-4. doi: 10.1016/j.ejmg.2016.04.003. Epub 2016 Apr 28.

PMID:
27132474
7.

How to use… microarray comparative genomic hybridisation to investigate developmental disorders.

Kharbanda M, Tolmie J, Joss S.

Arch Dis Child Educ Pract Ed. 2015 Feb;100(1):24-9. doi: 10.1136/archdischild-2014-306022. Epub 2014 Sep 4. Review.

PMID:
25189327
8.

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A; UK10K; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR.

Am J Hum Genet. 2014 Jun 5;94(6):915-23. doi: 10.1016/j.ajhg.2014.05.005.

9.

Assessment of accuracy of Cockcroft-Gault and MDRD formulae in critically ill Indian patients.

Kharbanda M, Majumdar A, Basu S, Todi S.

Indian J Crit Care Med. 2013 Mar;17(2):71-5. doi: 10.4103/0972-5229.114820.

10.

Right or left first during bilateral thoracoscopy?

Kharbanda M, Prasad A, Malik A.

Surg Endosc. 2013 Aug;27(8):2868-76. doi: 10.1007/s00464-013-2843-5. Epub 2013 Feb 13.

PMID:
23404154
11.

Comparative evaluation of incidence of emergence agitation and post-operative recovery profile in paediatric patients after isoflurane, sevoflurane and desflurane anaesthesia.

Singh R, Kharbanda M, Sood N, Mahajan V, Chatterji C.

Indian J Anaesth. 2012 Mar;56(2):156-61. doi: 10.4103/0019-5049.96325.

12.

Water, vegetation and sediment gradients in submerged aquatic vegetation mesocosms used for low-level phosphorus removal.

DeBusk TA, Kharbanda M, Jackson SD, Grace KA, Hileman K, Dierberg FE.

Sci Total Environ. 2011 Nov 1;409(23):5046-56. doi: 10.1016/j.scitotenv.2011.08.038. Epub 2011 Sep 16.

PMID:
21925712
13.

A new commercially viable synthetic route for donepezil hydrochloride: anti-Alzheimer's drug.

Dubey SK, Kharbanda M, Dubey SK, Mathela CS.

Chem Pharm Bull (Tokyo). 2010 Sep;58(9):1157-60.

14.

Alterations in T-cell receptor Vbeta repertoire of CD4 and CD8 T lymphocytes in human immunodeficiency virus-infected children.

Kharbanda M, McCloskey TW, Pahwa R, Sun M, Pahwa S.

Clin Diagn Lab Immunol. 2003 Jan;10(1):53-8.

15.

Evaluation of T cell receptor gene rearrangement excision circles after antiretroviral therapy in children infected with human immunodeficiency virus.

Chavan S, Bennuri B, Kharbanda M, Chandrasekaran A, Bakshi S, Pahwa S.

J Infect Dis. 2001 May 15;183(10):1445-54. Epub 2001 Apr 13.

PMID:
11329124
16.

Patterns of CD8 T cell clonal dominance in response to change in antiretroviral therapy in HIV-infected children.

Kharbanda M, Than S, Chitnis V, Sun M, Chavan S, Bakshi S, Pahwa S.

AIDS. 2000 Oct 20;14(15):2229-38.

PMID:
11089610
17.

Clonal dominance patterns of CD8 T cells in relation to disease progression in HIV-infected children.

Than S, Kharbanda M, Chitnis V, Bakshi S, Gregersen PK, Pahwa S.

J Immunol. 1999 Mar 15;162(6):3680-6.

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