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American Journal of Medical Genetics. Part A
|
May 16, 2003
Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome
B H Graham, C A Bacino
American Journal of Medical Genetics
|
February 6, 1999
Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart
C A Bacino, B Lee, A S Spikes, et al.
Clinical Genetics
|
November 4, 2004
Autism in Angelman syndrome: implications for autism research
S U Peters, A L Beaudet, N Madduri, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|
July 23, 2024
Fetal seizures observed on ultrasound can guide diagnosis and treatment of neonatal epileptic encephalopathy
S Dadoun, P Ketwaroo, C A Bacino, et al.
American Journal of Medical Genetics
|
June 8, 2000
Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes
C A Bacino, C D Kashork, N A Davino, et al.
American Journal of Medical Genetics
|
November 24, 1999
Caution: telomere crossing
L G Shaffer, C D Kashork, C A Bacino, et al.
Neurogenetics
|
August 29, 2001
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy
C F Boerkoel, H Takashima, C A Bacino, et al.
American Journal of Medical Genetics
|
May 8, 1995
Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature
C A Bacino, R Schreck, N Fischel-Ghodsian, et al.
American Journal of Human Genetics
|
March 31, 2000
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter
W Zhang, R Amir, D W Stockton, et al.
American Journal of Medical Genetics
|
August 8, 1997
Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review
D W Stockton, H L Ross, C A Bacino, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 25) with videos related to
Sort By:
Page
of 3
American Journal of Medical Genetics. Part A
|
May 16, 2003
Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome
B H Graham, C A Bacino
American Journal of Medical Genetics
|
February 6, 1999
Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart
C A Bacino, B Lee, A S Spikes, et al.
Clinical Genetics
|
November 4, 2004
Autism in Angelman syndrome: implications for autism research
S U Peters, A L Beaudet, N Madduri, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|
July 23, 2024
Fetal seizures observed on ultrasound can guide diagnosis and treatment of neonatal epileptic encephalopathy
S Dadoun, P Ketwaroo, C A Bacino, et al.
American Journal of Medical Genetics
|
June 8, 2000
Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes
C A Bacino, C D Kashork, N A Davino, et al.
American Journal of Medical Genetics
|
November 24, 1999
Caution: telomere crossing
L G Shaffer, C D Kashork, C A Bacino, et al.
Neurogenetics
|
August 29, 2001
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy
C F Boerkoel, H Takashima, C A Bacino, et al.
American Journal of Medical Genetics
|
May 8, 1995
Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature
C A Bacino, R Schreck, N Fischel-Ghodsian, et al.
American Journal of Human Genetics
|
March 31, 2000
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter
W Zhang, R Amir, D W Stockton, et al.
American Journal of Medical Genetics
|
August 8, 1997
Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review
D W Stockton, H L Ross, C A Bacino, et al.
Page
of 3