نتائج البحث - "Upadhyaya M."

1

دورية أكاديمية

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

المؤلفون: Spurlock, G, Bennett, E, Chuzhanova, N, Thomas, N, Jim, H-P., Side, L, Davies, S, Haan, E, Kerr, B, Huson, S M, Upadhyaya, M

المصدر: Journal of Medical Genetics ; volume 46, issue 7, page 431-437 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmg.2008.065474Test

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2

دورية أكاديمية

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

المؤلفون: Ferner, R. E, Huson, S. M, Thomas, N., Moss, C., Willshaw, H., Evans, D G., Upadhyaya, M., Towers, R., Gleeson, M., Steiger, C., Kirby, A.

المصدر: Journal of Medical Genetics ; volume 44, issue 2, page 81-88 ; ISSN 1468-6244

الإتاحة: https://doi.org/10.1136/jmg.2006.045906Test

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3

دورية أكاديمية

A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere

المؤلفون: Thomas, N S T, Wiseman, K, Spurlock, G, MacDonald, M, Ustek, D, Upadhyaya, M

المصدر: Journal of Medical Genetics ; volume 44, issue 3, page 215-218 ; ISSN 1468-6244

الإتاحة: https://doi.org/10.1136/jmg.2006.042804Test

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4

دورية أكاديمية

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.

المؤلفون: Upadhyaya, M, Maynard, J, Rogers, M T, Lunt, P W, Jardine, P, Ravine, D, Harper, P S

المصدر: Journal of Medical Genetics ; volume 34, issue 6, page 476-479 ; ISSN 1468-6244

الإتاحة: https://doi.org/10.1136/jmg.34.6.476Test

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5

دورية أكاديمية

No evidence for uniparental disomy as a common cause of Sotos syndrome.

المؤلفون: Smith, M, Fullwood, P, Qi, Y, Palmer, S, Upadhyaya, M, Cole, T

المصدر: Journal of Medical Genetics ; volume 34, issue 1, page 10-12 ; ISSN 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmg.34.1.10Test

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6

دورية أكاديمية

Molecular genetics of neurofibromatosis type 1 (NF1).

المؤلفون: Shen, M H, Harper, P S, Upadhyaya, M

المصدر: Journal of Medical Genetics ; volume 33, issue 1, page 2-17 ; ISSN 1468-6244

الإتاحة: https://doi.org/10.1136/jmg.33.1.2Test

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7

دورية أكاديمية

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

المؤلفون: Upadhyaya, M, Roberts, S H, Maynard, J, Sorour, E, Thompson, P W, Vaughan, M, Wilkie, A O, Hughes, H E

المصدر: Journal of Medical Genetics ; volume 33, issue 2, page 148-152 ; ISSN 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmg.33.2.148Test

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8

دورية أكاديمية

Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

المؤلفون: Upadhyaya, M, Maynard, J, Osborn, M, Huson, S M, Ponder, M, Ponder, B A, Harper, P S

المصدر: Journal of Medical Genetics ; volume 32, issue 9, page 706-710 ; ISSN 1468-6244

الإتاحة: https://doi.org/10.1136/jmg.32.9.706Test

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9

دورية أكاديمية

Inheritance of CMT1A duplication from a mosaic father.

المؤلفون: Sorour, E, Thompson, P, MacMillan, J, Upadhyaya, M

المصدر: Journal of Medical Genetics ; volume 32, issue 6, page 483-485 ; ISSN 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmg.32.6.483Test

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10

دورية أكاديمية

Vaginal rhabdomyosarcoma in a patient with Noonan syndrome.

المؤلفون: Khan, S, McDowell, H, Upadhyaya, M, Fryer, A

المصدر: Journal of Medical Genetics ; volume 32, issue 9, page 743-745 ; ISSN 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmg.32.9.743Test

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