Results 181 to 190 of about 1,315,164 (344)

Genetic findings in ten Ecuadorian patients with suspected Wilson's disease. [PDF]

Hum Genomics
Romero VI, Armas Samaniego M, León P, Arias-Almeida B, Sasaki R, Iwauchi Y, Hosomichi K.   +6 more
europepmc   +1 more source

He is Also a Southerner as well as an American: Jurisprudence, Legal History and the African-American Return to the south in the Twenty-First Century

, 2006
Anthony V. Baker
openalex   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Dietary Patterns and Prostate Cancer Risk in the Multiethnic Cohort Study. [PDF]

Cancer Epidemiol Biomarkers Prev
Xiong W, Park SY, Wan P, Wang A, Hughley RW, Le Marchand L, Wilkens LR, Conti DV, Haiman CA, Chen F.   +9 more
europepmc   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Tracing the Uncharted African Diaspora in Southern Brazil: The Genetic Legacies of Resistance in Two <i>Quilombos</i> from Paraná. [PDF]

Genes (Basel)
Joerin-Luque IA, Baldon Blaczyk I, Ianzen Dos Santos P, Guimarães Alves AC, Sukow NM, Malanczyn de Oliveira AC, Farias de Cristo T, Rodrigues do Amaral Bispo A, Gros AF, Santos Saatkamp ML, Dobis Barros V, Gehlen Tessaro J, da Silveira Costa ME, Leonardo Garcia L, Dall Oglio Bucco I, de Moura Bones DR, Cupertino SE, Boslooper Gonçalves L, Leandro Martins A, da Silva Guizelin G, de Paula AI, Vieira Gusmão Lopes C, Beltrame MH.   +22 more
europepmc   +1 more source

Advancing from History's Hollow to History's Mountain: Sources on African American History in Texas

, 2000
Alwyn Barr
openalex   +1 more source

The Impact Of Attachment History On Attachment Style And Battering Behavior In College Age African American Males

, 2013
Seyyid, Marni Nafeesah
openalex   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source