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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.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
December 14, 2023
Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal <i>STX16</i> deletion
John Odom, Carlos A Bacino, Lefkothea P Karaviti, et al.
European Journal of Medical Genetics
|
December 11, 2012
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability
Ina Schanze, Denny Schanze, Carlos 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.
Minerva Chirurgica
|
September 1, 1995
[Antibiotic prophylaxis with ++vancomycin in corrective surgery with alloplastic material]
N Massaioli, P Marchesa, A Bacino, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2012
WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype
Carlos A Bacino, Shweta U Dhar, Nicola Brunetti-Pierri, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2019
Agenesis of the corpus callosum and hepatoblastoma
Taylor M Luckie, Samara L Potter, Carlos A Bacino, et al.
American Journal of Medical Genetics. Part A
|
June 24, 2004
Cognitive and adaptive behavior profiles of children with Angelman syndrome
Sarika U Peters, Jan Goddard-Finegold, Arthur L Beaudet, et al.
American Journal of Medical Genetics
|
May 7, 2002
Familial complex chromosomal rearrangement resulting in a recombinant chromosome
Sue Ann Berend, Olaf A F Bodamer, Stuart K Shapira, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2024
MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability
Eric C Kao, Elizabeth A Mizerik, Carlos A Bacino, et al.
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of 18
Search research articles
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Showing results (11-20 of 173) with videos related to
Sort By:
Page
of 18
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.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
December 14, 2023
Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal <i>STX16</i> deletion
John Odom, Carlos A Bacino, Lefkothea P Karaviti, et al.
European Journal of Medical Genetics
|
December 11, 2012
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability
Ina Schanze, Denny Schanze, Carlos 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.
Minerva Chirurgica
|
September 1, 1995
[Antibiotic prophylaxis with ++vancomycin in corrective surgery with alloplastic material]
N Massaioli, P Marchesa, A Bacino, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2012
WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype
Carlos A Bacino, Shweta U Dhar, Nicola Brunetti-Pierri, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2019
Agenesis of the corpus callosum and hepatoblastoma
Taylor M Luckie, Samara L Potter, Carlos A Bacino, et al.
American Journal of Medical Genetics. Part A
|
June 24, 2004
Cognitive and adaptive behavior profiles of children with Angelman syndrome
Sarika U Peters, Jan Goddard-Finegold, Arthur L Beaudet, et al.
American Journal of Medical Genetics
|
May 7, 2002
Familial complex chromosomal rearrangement resulting in a recombinant chromosome
Sue Ann Berend, Olaf A F Bodamer, Stuart K Shapira, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2024
MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability
Eric C Kao, Elizabeth A Mizerik, Carlos A Bacino, et al.
Page
of 18