A E Chudley|S P Moroz - JoVE Visualize

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Journal of Medical Genetics|November 1, 1996

Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22A J Dawson, A J Mears, A E Chudley, et al.

American Journal of Medical Genetics|January 1, 1985

Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadismA E Chudley, B Rozdilsky, C S Houston, et al.

American Journal of Medical Genetics|September 1, 1983

Familial supernumerary microchromosome mosaicism: phenotypic effects and an attempt at characterizationA E Chudley, H Z Zheng, P D Pabello, et al.

Pediatrics|February 1, 1976

Membranoproliferative glomerulonephritis in childhood cirrhosis associated with alpha1-antitrypsin deficiencyS P Moroz, E Cutz, J W Balfe, et al.

The American Journal of Gastroenterology|July 27, 2001

Celiac disease in a patient with a congenital deficiency of intestinal enteropeptidaseS P Moroz, B Hadorn, T M Rossi, et al.

Seizure|July 22, 2011

Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorderA A Mhanni, J N Hartley, W G Sanger, et al.

Nature Genetics|August 1, 1995

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndromeK A Lugenbeel, A M Peier, N L Carson, et al.

American Journal of Medical Genetics|April 1, 1990

Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCRC A Gregory, A J Kirkilionis, C R Greenberg, et al.

American Journal of Medical Genetics|April 1, 1992

New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba IndiansS L Marles, C R Greenberg, T V Persaud, et al.

American Journal of Medical Genetics|June 1, 1982

Brief clinical report: ring chromosome 17 in a mentally retarded young man - clinical, cytogenetic, and biochemical investigationsA E Chudley, P D Pabello, P J McAlpine, et al.

Pageof 11

Showing results (71-80 of 108) with videos related to

Sort By:

Pageof 11

Journal of Medical Genetics|November 1, 1996

Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22A J Dawson, A J Mears, A E Chudley, et al.

American Journal of Medical Genetics|January 1, 1985

Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadismA E Chudley, B Rozdilsky, C S Houston, et al.

American Journal of Medical Genetics|September 1, 1983

Familial supernumerary microchromosome mosaicism: phenotypic effects and an attempt at characterizationA E Chudley, H Z Zheng, P D Pabello, et al.

Pediatrics|February 1, 1976

Membranoproliferative glomerulonephritis in childhood cirrhosis associated with alpha1-antitrypsin deficiencyS P Moroz, E Cutz, J W Balfe, et al.

The American Journal of Gastroenterology|July 27, 2001

Celiac disease in a patient with a congenital deficiency of intestinal enteropeptidaseS P Moroz, B Hadorn, T M Rossi, et al.

Seizure|July 22, 2011

Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorderA A Mhanni, J N Hartley, W G Sanger, et al.

Nature Genetics|August 1, 1995

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndromeK A Lugenbeel, A M Peier, N L Carson, et al.

American Journal of Medical Genetics|April 1, 1990

Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCRC A Gregory, A J Kirkilionis, C R Greenberg, et al.

American Journal of Medical Genetics|April 1, 1992

New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba IndiansS L Marles, C R Greenberg, T V Persaud, et al.

American Journal of Medical Genetics|June 1, 1982

Brief clinical report: ring chromosome 17 in a mentally retarded young man - clinical, cytogenetic, and biochemical investigationsA E Chudley, P D Pabello, P J McAlpine, et al.

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