How To Succeed In Breastfeeding Without Really Trying, Or Ten Steps To Laugh Your Way Through

Autor: Natasha Shur, Paulina Shur

How to Succeed in Breastfeeding Without Really Trying provides new mothers with humorous, easy-to-use, hands-on advice and step-by-step instructions on how to initiate, sustain, and actually succeed in breastfeeding. After giving birth, many women ar

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

Autor: Sheng‐Jia Lin, Barbara Vona, Hillary M. Porter, Mahmoud Izadi, Kevin Huang, Yves Lacassie, Jill A. Rosenfeld, Saadullah Khan, Cassidy Petree, Tayyiba A. Ali, Nazif Muhammad, Sher A. Khan, Noor Muhammad, Pengfei Liu, Marie‐Louise Haymon, Franz Rüschendorf, Il‐Keun Kong, Linda Schnapp, Natasha Shur, Lynn Chorich, Lawrence Layman, Thomas Haaf, Ehsan Pourkarimi, Hyung‐Goo Kim, Gaurav K. Varshney

Aminoacyl-tRNA synthetases (ARSs) are essential enzymes for faithful assignment of amino acids to their cognate tRNA. Variants in ARS genes are frequently associated with clinically heterogeneous phenotypes in humans and follow both autosomal dominan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b88e6caf574781b7bba2fb8678b4ca90
http://edoc.mdc-berlin.de/21788/2/21788suppl.zip

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin

Autor: M. Laura Duque Lasio, Angela C. Leshinski, Nicole H. Ducich, Leigh Anne Flore, April Lehman, Natasha Shur, Parul B. Jayakar, Bryan E. Hainline, Alice A. Basinger, William G. Wilson, George A. Diaz, Richard W. Erbe, Dwight D. Koeberl, Jerry Vockley, Jirair K. Bedoyan

Publikováno v: Molecular Genetics and Metabolism. 139:107605

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eaeadf39d05523c7fa729dfaf9a625f1
https://doi.org/10.1016/j.ymgme.2023.107605

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Autor: Mari Rossi, Melissa K. Gabriel, Rolph Pfundt, Ange Line Bruel, Sonal Mahida, Daniel Groepper, Kristin W. Barañano, Tjitske Kleefstra, Saskia Brulleman, Charlotte de Konink, Angelika Erwin, Aida Telegrafi, Kristin Lindstrom, Amy Blevins, Marjon van Slegtenhorst, Katherine G. Langley, David A. Koolen, Geeske M. van Woerden, Anna Chassevent, Louisa Kalsner, A. Micheil Innes, Ype Elgersma, David R. FitzPatrick, Kristin G. Monaghan, Allison Goodwin, Ben Distel, Karen W. Gripp, Alice S. Brooks, Natasha Shur, Fatima Rehman, Rossella Avagliano Trezza, Amanda Noyes, Melanie Bos, Jane Juusola, Gwynna de Geus, Jennifer B. Humberson, Andrew O.M. Wilkie, Jessica Hoffman, Marleen Simon, David Johnson, Róisín McCormack, Sumit Punj, Maria J. Guillen Sacoto, Julie Fleischer, Eduardo Calpena, Arthur Sorlin, Allison Schreiber

Publikováno v: Human Mutation, 42(4), 445-459. Wiley-Liss Inc.
Human Mutation, 42, 445-459
Human Mutation, 42, 4, pp. 445-459
Human Mutation
Human mutation, 42(4), 445-459. Wiley-Liss Inc.

Thousand and one amino‐acid kinase 1 (TAOK1) is a MAP3K protein kinase, regulating different mitogen‐activated protein kinase pathways, thereby modulating a multitude of processes in the cell. Given the recent finding of TAOK1 involvement in neur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd52b60cd16ed1747221a17833ce9f16
http://www.scopus.com/inward/record.url?scp=85101812177&partnerID=8YFLogxK

Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis

Autor: Carlos Ferreira, Jacklyn Omorodion, Natasha Shur, Firas Alqarajeh, Kerri Bosfield

Publikováno v: Translational Science of Rare Diseases

Background Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder characterized by deficient membrane transport of cationic amino acids. It is caused by pathogenic variants in SLC7A7, resulting in impairment of intestinal import a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd0d28cb66764fac78503fd26da84872
http://europepmc.org/articles/PMC7590902