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Neuromuscular Disorders : NMD
|
May 1, 1993
MELAS point mutation with unusual clinical presentation
A L Shanske, S Shanske, G Silvestri, et al.
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics
|
April 1, 1997
Hemimaxillofacial dysplasia: a report of two new cases and further delineation of the disorder
K Paticoff, R W Marion, R J Shprintzen, et al.
Human Genetics
|
March 10, 1999
A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII)
M L Huie, A L Shanske, J S Kasper, et al.
Pediatric Neurology
|
January 1, 1996
A common mutation site in the beta-galactosidase gene originates in Puerto Rico
N C Chiu, W H Qian, A L Shanske, et al.
Journal of Medical Genetics
|
August 28, 1999
Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins
A L Shanske, P Dowling, R Schmidt, et al.
Neurology
|
February 1, 1997
Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy
M el-Schahawi, A López de Munain, A M Sarrazin, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|
December 1, 1996
Prenatal diagnosis of type 2 Pfeiffer syndrome
P S Bernstein, S J Gross, D J Cohen, et al.
Clinical Genetics
|
January 6, 2007
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
M Leipoldt, M Erdel, G A Bien-Willner, et al.
Journal of Medical Genetics
|
October 4, 2005
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype
C Bendavid, B R Haddad, A Griffin, et al.
Page
of 2
Search research articles
Search
Showing results (11-20 of 19) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 19 results.
Neuromuscular Disorders : NMD
|
May 1, 1993
MELAS point mutation with unusual clinical presentation
A L Shanske, S Shanske, G Silvestri, et al.
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics
|
April 1, 1997
Hemimaxillofacial dysplasia: a report of two new cases and further delineation of the disorder
K Paticoff, R W Marion, R J Shprintzen, et al.
Human Genetics
|
March 10, 1999
A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII)
M L Huie, A L Shanske, J S Kasper, et al.
Pediatric Neurology
|
January 1, 1996
A common mutation site in the beta-galactosidase gene originates in Puerto Rico
N C Chiu, W H Qian, A L Shanske, et al.
Journal of Medical Genetics
|
August 28, 1999
Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins
A L Shanske, P Dowling, R Schmidt, et al.
Neurology
|
February 1, 1997
Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy
M el-Schahawi, A López de Munain, A M Sarrazin, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|
December 1, 1996
Prenatal diagnosis of type 2 Pfeiffer syndrome
P S Bernstein, S J Gross, D J Cohen, et al.
Clinical Genetics
|
January 6, 2007
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
M Leipoldt, M Erdel, G A Bien-Willner, et al.
Journal of Medical Genetics
|
October 4, 2005
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype
C Bendavid, B R Haddad, A Griffin, et al.
Page
of 2