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Items: 8

1.

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma.

Machol K, Jankovic J, Vijayakumar D, Burrage LC, Jain M, Lewis RA, Fuller GN, Xu M, Penas-Prado M, Gule-Monroe MK, Rosenfeld JA, Chen R, Eng CM, Yang Y, Lee BH, Moretti PM; Undiagnosed Diseases Network, Dhar SU.

Neurol Genet. 2018 Jul 20;4(4):e248. doi: 10.1212/NXG.0000000000000248. eCollection 2018 Aug. No abstract available.

2.

Cleidocranial Dysplasia Spectrum Disorder.

Machol K, Mendoza-Londono R, Lee B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Jan 3 [updated 2017 Nov 16].

3.

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC.

Am J Med Genet A. 2017 Mar;173(3):733-739. doi: 10.1002/ajmg.a.38059. Epub 2016 Nov 26.

4.

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M; DDD Study, van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M.

Am J Hum Genet. 2016 Oct 6;99(4):934-941. doi: 10.1016/j.ajhg.2016.08.001. Epub 2016 Sep 8.

5.

Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.

Arunrut T, Sabbadini M, Jain M, Machol K, Scaglia F, Slavotinek A.

Am J Med Genet A. 2016 Oct;170(10):2711-8. doi: 10.1002/ajmg.a.37809. Epub 2016 Jun 20. Review.

PMID:
27320698
6.

Behçet's disease and cerebral sinus vein thrombosis in children: a case study and review of the literature.

Rottenstreich A, Machol K, Eisenstein EM, Padeh S, Klar A, Livneh A, Berkun Y.

Clin Exp Rheumatol. 2015 Nov-Dec;33(6 Suppl 94):S163-8. Epub 2015 Oct 20. Review.

PMID:
26486489
7.

Keeping the heart in mind when managing hemolytic: uremic syndrome.

Machol K, Vivante A, Rubinsthein M, Dekel B, Danieli J, Paret G.

Isr Med Assoc J. 2011 Jul;13(7):446-7. No abstract available.

8.

The proto-oncogene ERG in megakaryoblastic leukemias.

Rainis L, Toki T, Pimanda JE, Rosenthal E, Machol K, Strehl S, Göttgens B, Ito E, Izraeli S.

Cancer Res. 2005 Sep 1;65(17):7596-602.

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