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Pawel Stankiewicz

Showing results (51-60 of 140) with videos related to

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Journal of Applied Genetics|May 15, 2007
Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patientsJoanna Pietrzak, Kristin Mrasek, Ewa Obersztyn, et al.
European Journal of Human Genetics : EJHG|August 9, 2012
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disordersSandesh C S Nagamani, Ayelet Erez, Bruria Ben-Zeev, et al.
American Journal of Human Genetics|February 24, 2005
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasiaGopalrao V N Velagaleti, Gabriel A Bien-Willner, Jill K Northup, et al.
Journal of Medical Genetics|October 6, 2010
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemiaMargaret J Wat, Victoria B Enciso, Wojciech Wiszniewski, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 11, 2013
SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delayYu An, Sami S Amr, Alcy Torres, et al.
Genome Research|June 17, 2018
Predicting human genes susceptible to genomic instability associated with <i>Alu</i>/<i>Alu</i>-mediated rearrangementsXiaofei Song, Christine R Beck, Renqian Du, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|May 17, 2011
16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newbornFlore Zufferey, Danielle Martinet, Maria-Chiara Osterheld, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failureSteven M Harrison, Ian M Campbell, Melise Keays, et al.
European Journal of Human Genetics : EJHG|August 19, 2010
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGHAnne Chun-Hui Tsai, Cherilyn J Dossett, Carol S Walton, et al.
Prenatal Diagnosis|April 4, 2012
Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arraysWeimin Bi, Amy Breman, Chad A Shaw, et al.
Pageof 14

Showing results (51-60 of 140) with videos related to

Sort By:
Pageof 14
Journal of Applied Genetics|May 15, 2007
Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patientsJoanna Pietrzak, Kristin Mrasek, Ewa Obersztyn, et al.
European Journal of Human Genetics : EJHG|August 9, 2012
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disordersSandesh C S Nagamani, Ayelet Erez, Bruria Ben-Zeev, et al.
American Journal of Human Genetics|February 24, 2005
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasiaGopalrao V N Velagaleti, Gabriel A Bien-Willner, Jill K Northup, et al.
Journal of Medical Genetics|October 6, 2010
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemiaMargaret J Wat, Victoria B Enciso, Wojciech Wiszniewski, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 11, 2013
SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delayYu An, Sami S Amr, Alcy Torres, et al.
Genome Research|June 17, 2018
Predicting human genes susceptible to genomic instability associated with <i>Alu</i>/<i>Alu</i>-mediated rearrangementsXiaofei Song, Christine R Beck, Renqian Du, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|May 17, 2011
16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newbornFlore Zufferey, Danielle Martinet, Maria-Chiara Osterheld, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failureSteven M Harrison, Ian M Campbell, Melise Keays, et al.
European Journal of Human Genetics : EJHG|August 19, 2010
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGHAnne Chun-Hui Tsai, Cherilyn J Dossett, Carol S Walton, et al.
Prenatal Diagnosis|April 4, 2012
Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arraysWeimin Bi, Amy Breman, Chad A Shaw, et al.
Pageof 14