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A Bacino

Showing results (31-40 of 173) with videos related to

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American Journal of Medical Genetics|April 15, 2000
Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratoryK E Atkins, A Gregg, A S Spikes, et al.
American Journal of Medical Genetics. Part A|August 21, 2012
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndromeLindsay C Burrage, Richard E Person, Angela Flores, et al.
American Journal of Medical Genetics|September 13, 2000
Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndromeC A Bacino, D W Stockton, R A Sierra, et al.
American Journal of Medical Genetics|January 20, 1997
The Pointer syndrome: a new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficultiesA H Huq, R M Braverman, F Greenberg, et al.
American Journal of Medical Genetics. Part A|June 29, 2010
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage regionNicola Brunetti-Pierri, Ralph Lachman, Kwanghyuk Lee, et al.
Minerva Chirurgica|June 22, 2000
[Gasless laparoscopic cholecystectomy. Our experience with 130 cases compared with 450 cases treated with the CO2 technique]E Bossuto, L Bonatti, R Schieroni, et al.
American Journal of Medical Genetics. Part A|May 12, 2006
Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardationP A Lennon, M L Cooper, M A Curtis, et al.
American Journal of Medical Genetics. Part A|March 3, 2007
Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and reviewP A Lennon, M L Cooper, D A Peiffer, et al.
Hemoglobin|June 1, 2005
ATR-16 due to a de novo complex rearrangement of chromosome 16Marta S Gallego, Gabriela Zelaya, Aurora S Feliu, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutationNicola Brunetti-Pierri, Maria Torrado, Maria Del Carmen Fernandez, et al.
Pageof 18

Showing results (31-40 of 173) with videos related to

Sort By:
Pageof 18
American Journal of Medical Genetics|April 15, 2000
Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratoryK E Atkins, A Gregg, A S Spikes, et al.
American Journal of Medical Genetics. Part A|August 21, 2012
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndromeLindsay C Burrage, Richard E Person, Angela Flores, et al.
American Journal of Medical Genetics|September 13, 2000
Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndromeC A Bacino, D W Stockton, R A Sierra, et al.
American Journal of Medical Genetics|January 20, 1997
The Pointer syndrome: a new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficultiesA H Huq, R M Braverman, F Greenberg, et al.
American Journal of Medical Genetics. Part A|June 29, 2010
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage regionNicola Brunetti-Pierri, Ralph Lachman, Kwanghyuk Lee, et al.
Minerva Chirurgica|June 22, 2000
[Gasless laparoscopic cholecystectomy. Our experience with 130 cases compared with 450 cases treated with the CO2 technique]E Bossuto, L Bonatti, R Schieroni, et al.
American Journal of Medical Genetics. Part A|May 12, 2006
Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardationP A Lennon, M L Cooper, M A Curtis, et al.
American Journal of Medical Genetics. Part A|March 3, 2007
Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and reviewP A Lennon, M L Cooper, D A Peiffer, et al.
Hemoglobin|June 1, 2005
ATR-16 due to a de novo complex rearrangement of chromosome 16Marta S Gallego, Gabriela Zelaya, Aurora S Feliu, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutationNicola Brunetti-Pierri, Maria Torrado, Maria Del Carmen Fernandez, et al.
Pageof 18