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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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M A Patton

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Nature Genetics|August 10, 2000

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2A R Afzal, A Rajab, C D Fenske, et al.

The Journal of Clinical Endocrinology and Metabolism|December 16, 1998

Germline RET codon 918 mutation in apparently isolated intestinal ganglioneuromatosisC Eng, D J Marsh, B G Robinson, et al.

Journal of Medical Genetics|January 20, 2004

TBX22 mutations are a frequent cause of cleft palateA C B Marçano, K Doudney, C Braybrook, et al.

The Journal of Clinical Endocrinology and Metabolism|June 1, 1996

The short-term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with Noonan's syndromeA M Cotterill, W J McKenna, A F Brady, et al.

Human Genetics|September 10, 1999

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) aloneM C Romey, C Guittard, J P Chazalette, et al.

Circulation|September 8, 1999

Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcriptsA Murray, C Donger, C Fenske, et al.

Journal of Medical Genetics|February 24, 2001

Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6A Ion, A H Crosby, H Kremer, et al.

Nature Genetics|November 13, 2001

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndromeM Tartaglia, E L Mehler, R Goldberg, et al.

American Journal of Human Genetics|October 23, 1997

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathiesP D'Adamo, L Fassone, A Gedeon, et al.

American Journal of Human Genetics|October 10, 2007

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone developmentM A Simpson, R Hsu, L S Keir, et al.

Pageof 11

Search research articles

Showing results (101-110 of 110) with videos related to

Sort By:

Pageof 11

You have reached the last page of results.This site can display upto 110 results.

Nature Genetics|August 10, 2000

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2A R Afzal, A Rajab, C D Fenske, et al.

The Journal of Clinical Endocrinology and Metabolism|December 16, 1998

Germline RET codon 918 mutation in apparently isolated intestinal ganglioneuromatosisC Eng, D J Marsh, B G Robinson, et al.

Journal of Medical Genetics|January 20, 2004

TBX22 mutations are a frequent cause of cleft palateA C B Marçano, K Doudney, C Braybrook, et al.

The Journal of Clinical Endocrinology and Metabolism|June 1, 1996

The short-term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with Noonan's syndromeA M Cotterill, W J McKenna, A F Brady, et al.

Human Genetics|September 10, 1999

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) aloneM C Romey, C Guittard, J P Chazalette, et al.

Circulation|September 8, 1999

Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcriptsA Murray, C Donger, C Fenske, et al.

Journal of Medical Genetics|February 24, 2001

Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6A Ion, A H Crosby, H Kremer, et al.

Nature Genetics|November 13, 2001

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndromeM Tartaglia, E L Mehler, R Goldberg, et al.

American Journal of Human Genetics|October 23, 1997

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathiesP D'Adamo, L Fassone, A Gedeon, et al.

American Journal of Human Genetics|October 10, 2007

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone developmentM A Simpson, R Hsu, L S Keir, et al.

Pageof 11