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Pawel Stankiewicz

Showing results (41-50 of 140) with videos related to

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Human Genetics|April 21, 2004
Small marker chromosomes in two patients with segmental aneusomy for proximal 17pChristine J Shaw, Pawel Stankiewicz, Gabriel Bien-Willner, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delayJun Gu, Sandesh C Sreenath Nagamani, Vicki L Hopwood, et al.
Molecular Genetics & Genomic Medicine|January 12, 2019
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotationKarin Salehi Karlslätt, Maria Pettersson, Nina Jäntti, et al.
Human Genetics|May 16, 2007
Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1)Marta Smyk, Jonathan S Berg, Amber Pursley, et al.
Plos Genetics|July 31, 2007
Population bottlenecks as a potential major shaping force of human genome architectureAdrian Gherman, Peter E Chen, Tanya M Teslovich, et al.
The Pediatric Infectious Disease Journal|March 8, 2005
Emergence of a predominant clone of community-acquired Staphylococcus aureus among children in Houston, TexasAna M Avalos Mishaan, Edward O Mason, Gerardo Martinez-Aguilar, et al.
European Journal of Human Genetics : EJHG|November 27, 2008
Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing lossSandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Christine Eng, et al.
American Journal of Human Genetics|December 11, 2003
The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeatsAikaterini Barbouti, Pawel Stankiewicz, Chad Nusbaum, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletionLuis M Franco, Thomy de Ravel, Brett H Graham, et al.
American Journal of Medical Genetics. Part A|July 15, 2005
Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic featuresKwei Shuai Hwang, Margaret A Pearson, Pawel Stankiewicz, et al.
Pageof 14

Showing results (41-50 of 140) with videos related to

Sort By:
Pageof 14
Human Genetics|April 21, 2004
Small marker chromosomes in two patients with segmental aneusomy for proximal 17pChristine J Shaw, Pawel Stankiewicz, Gabriel Bien-Willner, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delayJun Gu, Sandesh C Sreenath Nagamani, Vicki L Hopwood, et al.
Molecular Genetics & Genomic Medicine|January 12, 2019
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotationKarin Salehi Karlslätt, Maria Pettersson, Nina Jäntti, et al.
Human Genetics|May 16, 2007
Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1)Marta Smyk, Jonathan S Berg, Amber Pursley, et al.
Plos Genetics|July 31, 2007
Population bottlenecks as a potential major shaping force of human genome architectureAdrian Gherman, Peter E Chen, Tanya M Teslovich, et al.
The Pediatric Infectious Disease Journal|March 8, 2005
Emergence of a predominant clone of community-acquired Staphylococcus aureus among children in Houston, TexasAna M Avalos Mishaan, Edward O Mason, Gerardo Martinez-Aguilar, et al.
European Journal of Human Genetics : EJHG|November 27, 2008
Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing lossSandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Christine Eng, et al.
American Journal of Human Genetics|December 11, 2003
The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeatsAikaterini Barbouti, Pawel Stankiewicz, Chad Nusbaum, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletionLuis M Franco, Thomy de Ravel, Brett H Graham, et al.
American Journal of Medical Genetics. Part A|July 15, 2005
Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic featuresKwei Shuai Hwang, Margaret A Pearson, Pawel Stankiewicz, et al.
Pageof 14