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M C Phelan

Showing results (31-40 of 44) with videos related to

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American Journal of Medical Genetics|July 15, 1994
Asymmetry of methylation with FMR-1 full mutation in two 45,X/46,XX mosaic females associated with normal intellectL R Shapiro, R J Simensen, P L Wilmot, et al.
American Journal of Human Genetics|October 1, 1988
Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21M C Phelan, C C Morton, R E Stevenson, et al.
American Journal of Medical Genetics|July 31, 1995
Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individualsM C Phelan, R C Rogers, K B Clarkson, et al.
Nature|November 7, 1985
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndromeJ F Gusella, R E Tanzi, P I Bader, et al.
American Journal of Medical Genetics|March 21, 1998
Most Jacobsen syndrome deletion breakpoints occur distal to FRA11BR C Michaelis, G V Velagaleti, C Jones, et al.
Southern Medical Journal|December 1, 1978
New method for obtaining uncontaminated urine from womenR Cade, J D Raulerson, J J Mahoney, et al.
American Journal of Medical Genetics|June 8, 2001
22q13 deletion syndromeM C Phelan, R C Rogers, R A Saul, et al.
Journal of Medical Genetics|August 16, 2003
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptomsH L Wilson, A C C Wong, S R Shaw, et al.
American Journal of Medical Genetics|January 16, 1995
Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new casesM J Pettenati, P N Rao, M C Phelan, et al.
Genomics|September 7, 2001
STK25 is a candidate gene for pseudopseudohypoparathyroidismM S Davids, E Crawford, S Weremowicz, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics|July 15, 1994
Asymmetry of methylation with FMR-1 full mutation in two 45,X/46,XX mosaic females associated with normal intellectL R Shapiro, R J Simensen, P L Wilmot, et al.
American Journal of Human Genetics|October 1, 1988
Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21M C Phelan, C C Morton, R E Stevenson, et al.
American Journal of Medical Genetics|July 31, 1995
Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individualsM C Phelan, R C Rogers, K B Clarkson, et al.
Nature|November 7, 1985
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndromeJ F Gusella, R E Tanzi, P I Bader, et al.
American Journal of Medical Genetics|March 21, 1998
Most Jacobsen syndrome deletion breakpoints occur distal to FRA11BR C Michaelis, G V Velagaleti, C Jones, et al.
Southern Medical Journal|December 1, 1978
New method for obtaining uncontaminated urine from womenR Cade, J D Raulerson, J J Mahoney, et al.
American Journal of Medical Genetics|June 8, 2001
22q13 deletion syndromeM C Phelan, R C Rogers, R A Saul, et al.
Journal of Medical Genetics|August 16, 2003
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptomsH L Wilson, A C C Wong, S R Shaw, et al.
American Journal of Medical Genetics|January 16, 1995
Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new casesM J Pettenati, P N Rao, M C Phelan, et al.
Genomics|September 7, 2001
STK25 is a candidate gene for pseudopseudohypoparathyroidismM S Davids, E Crawford, S Weremowicz, et al.
Pageof 5