Hall CM - Search Results

1

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.

Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R. Mansour S, et al. Among authors: hall cm. Eur J Hum Genet. 2012 Oct;20(10):1024-31. doi: 10.1038/ejhg.2012.57. Epub 2012 Apr 4. Eur J Hum Genet. 2012. PMID: 22473091 Free PMC article.

2

A clinical review and introduction of the diagnostic algorithm for thalidomide embryopathy (DATE).

Mansour S, Baple E, Hall CM. Mansour S, et al. Among authors: hall cm. J Hand Surg Eur Vol. 2019 Jan;44(1):96-108. doi: 10.1177/1753193418800631. Epub 2018 Sep 25. J Hand Surg Eur Vol. 2019. PMID: 30253685 Review.

3

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.

Hall CM, Liu B, Haworth A, Reed L, Pryce J, Mansour S. Hall CM, et al. Eur J Med Genet. 2021 Mar;64(3):104162. doi: 10.1016/j.ejmg.2021.104162. Epub 2021 Feb 7. Eur J Med Genet. 2021. PMID: 33567347

4

Albright's hereditary osteodystrophy and pseudohypoparathyroidism.

Wilson LC, Hall CM. Wilson LC, et al. Among authors: hall cm. Semin Musculoskelet Radiol. 2002 Dec;6(4):273-83. doi: 10.1055/s-2002-36726. Semin Musculoskelet Radiol. 2002. PMID: 12541184 Review.

5

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion.

Horsnell K, Ali M, Malik S, Wilson L, Hall C, Debeer P, Crow Y. Horsnell K, et al. Eur J Med Genet. 2006 Sep-Oct;49(5):396-401. doi: 10.1016/j.ejmg.2006.01.004. Epub 2006 Feb 9. Eur J Med Genet. 2006. PMID: 16497573

6

Cranio-osteoarthropathy in sibs.

Dabir T, Sills AM, Hall CM, Bennett C, Wilson LC, Hennekam RCM. Dabir T, et al. Among authors: hall cm. Clin Dysmorphol. 2007 Jul;16(3):197-201. doi: 10.1097/MCD.0b013e32801470d8. Clin Dysmorphol. 2007. PMID: 17551338

7

Chondrodysplasia punctata: a clinical diagnostic and radiological review.

Irving MD, Chitty LS, Mansour S, Hall CM. Irving MD, et al. Among authors: hall cm. Clin Dysmorphol. 2008 Oct;17(4):229-41. doi: 10.1097/MCD.0b013e3282fdcc70. Clin Dysmorphol. 2008. PMID: 18978650 Review.

8

Type 1 collagenopathy presenting with a Russell-Silver phenotype.

Parker MJ, Deshpande C, Rankin J, Wilson LC, Balasubramanian M, Hall CM, Wagner BE, Pollitt R, Dalton A, Bishop NJ. Parker MJ, et al. Among authors: hall cm. Am J Med Genet A. 2011 Jun;155A(6):1414-8. doi: 10.1002/ajmg.a.33998. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567925

9

A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism.

Race H, Hall CM, Harrison MG, Quarrell OW, Wakeling EL. Race H, et al. Among authors: hall cm. Clin Dysmorphol. 2010 Jan;19(1):23-27. doi: 10.1097/MCD.0b013e328334557e. Clin Dysmorphol. 2010. PMID: 19952732

10

The phenotype of survivors of campomelic dysplasia.

Mansour S, Offiah AC, McDowall S, Sim P, Tolmie J, Hall C. Mansour S, et al. J Med Genet. 2002 Aug;39(8):597-602. doi: 10.1136/jmg.39.8.597. J Med Genet. 2002. PMID: 12161603 Free PMC article. No abstract available.

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