Joss S - Search Results

1

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, Splitt M, McKee S, Németh AH, Scott RH, Wright CF, Marsh JA, Hurles ME, FitzPatrick DR; DDD Study. Aitken S, et al. Among authors: joss s. Am J Hum Genet. 2019 Nov 7;105(5):933-946. doi: 10.1016/j.ajhg.2019.09.015. Epub 2019 Oct 10. Am J Hum Genet. 2019. PMID: 31607427 Free PMC article.

2

Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome.

Joss SK, Paterson W, Donaldson MD, Tolmie JL. Joss SK, et al. Am J Med Genet. 2002 Nov 15;113(1):105-7. doi: 10.1002/ajmg.10745. Am J Med Genet. 2002. PMID: 12400075

3

A Schinzel-Giedion-like syndrome--a milder version or a separate condition?

Joss S, Dean JC. Joss S, et al. Clin Dysmorphol. 2002 Oct;11(4):271-5. doi: 10.1097/00019605-200210000-00008. Clin Dysmorphol. 2002. PMID: 12401993

4

Nasopharyngeal teratoma associated with a complex congenital cardiac anomaly.

Saha SP, Hobson E, Joss S. Saha SP, et al. Among authors: joss s. Clin Dysmorphol. 2007 Apr;16(2):113-114. doi: 10.1097/MCD.0b013e328054c547. Clin Dysmorphol. 2007. PMID: 17351356 No abstract available.

5

Mardini-Nyhan association (lung agenesis, congenital heart, and thumb anomalies): three new cases and possible recurrence in a sib-is there a distinct recessive syndrome?

Hastings R, Harding D, Donaldson A, Liebling R, Hayes A, Kraus A, Joss S, Narayanaswamy S, Turnpenny P, Smithson S. Hastings R, et al. Among authors: joss s. Am J Med Genet A. 2009 Dec;149A(12):2838-42. doi: 10.1002/ajmg.a.33124. Am J Med Genet A. 2009. PMID: 19938090

6

The face of Ulnar Mammary syndrome?

Joss S, Kini U, Fisher R, Mundlos S, Prescott K, Newbury-Ecob R, Tolmie J. Joss S, et al. Eur J Med Genet. 2011 May-Jun;54(3):301-5. doi: 10.1016/j.ejmg.2010.12.010. Epub 2011 Jan 1. Eur J Med Genet. 2011. PMID: 21199695

7

Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?

McGowan R, Challoner BR, Ross S, Holloway S, Joss S, Wilcox D, Holden ST, Tolmie J, Longman C. McGowan R, et al. Among authors: joss s. Clin Genet. 2013 Feb;83(2):187-90. doi: 10.1111/j.1399-0004.2012.01876.x. Epub 2012 Apr 9. Clin Genet. 2013. PMID: 22428906

8

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Among authors: joss s. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.

9

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.

Yamamoto T, Wilsdon A, Joss S, Isidor B, Erlandsson A, Suri M, Sangu N, Shimada S, Shimojima K, Le Caignec C, Samuelsson L, Stefanova M. Yamamoto T, et al. Among authors: joss s. J Hum Genet. 2014 Jun;59(6):300-6. doi: 10.1038/jhg.2014.21. Epub 2014 Mar 20. J Hum Genet. 2014. PMID: 24646727

10

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

Kharbanda M, Tolmie J, Joss S. Kharbanda M, et al. Among authors: joss s. Arch Dis Child Educ Pract Ed. 2015 Feb;100(1):24-9. doi: 10.1136/archdischild-2014-306022. Epub 2014 Sep 4. Arch Dis Child Educ Pract Ed. 2015. PMID: 25189327 Review.

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