Results 11 to 20 of about 1,687,960 (109)

Brief von Josef Steindl an Sergio Parrinello

BRIEF VON JOSEF STEINDL AN SERGIO PARRINELLO Brief von Josef Steindl an Sergio Parrinello ([1]
Steindl, Josef
core   +5 more sources

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

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 993-1003, May 2026.
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

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

Genome Medicine
Background Pathogenic variants in AGO2, encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES).
Debora Tibbe, Christina Kiel, Olena Ielesicheva, Kerstin Robles de Maruri, Helia Mahboobi, Joschka Züghart, Hans-Hinrich Hönck, Christoph Meier, Fabiola Biasella, Marcela Legüe, María Francisca Lopez Avaria, Edward Blair, Tracy Lester, Benito Banos-Pinero, Jose S. Pulido, Adele Schneider, Rebecca Procopio, Chloe Quelin, Bailey J. Leal, Julian A. Martinez-Agosto, Stephanie A. Bottomley, Ágnes Till, Kinga Hadzsiev, Renata Szalai, Kathryn Nicole Weaver, Joel Fluss, Henri Margot, Berta Almoguera, Isabel Lorda-Sánchez, Lucía López-López, J. Austin Hamm, Himanshu Goel, Yasemin Alanay, Ozlem Akgun Doğan, Gulşah Şebnem Ozkose-Iyigel, Genevieve Baujat, Marion Lesieur-Sebellin, Sophie Rondeau, Katherine Schon, Joseph Christopher, Bertrand Isidor, Benjamin Cogne, Neena S. Agrawal, Ryan Dahlhauser, Yutaka Furuta, Rachel Rabin, John Pappas, Chirag Patel, Irma Järvelä, Merja Rauhala, Isabelle Schrauwen, Suzanne M. Leal, Siddharth Banka, Riya Tharakan, Céline Pebrel-Richard, Fanny Laffargue, Nelly Durand, Tristan Celse, Maja Hempel, Ilia Valentin, Andrea Gregorova, Lenka Noskova, Sara Baumgartner, Christa Überbacher, Kai Muru, Ülle Murumets, Stella Lilles, Katharina Steindl, Anita Rauch, Federica Ruscitti, Alain Verloes, Jonathan Levy, Joohyun Park, Tobias B. Haack, Ingrid Bader, Sophie Julia, Guillaume Banneau, Alison M. Muir, Davor Lessel, Hans-Jürgen Kreienkamp   +79 more
doaj   +1 more source

Interview for Prof. Joseph Steindl

INTERVIEW FOR PROF. JOSEPH STEINDL Interview for Prof. Joseph Steindl ([1]
Steindl, Josef, Colat[?], Lorenzo
core   +1 more source

Brief von Frank G. Steindl an Josef Steindl

BRIEF VON FRANK G. STEINDL AN JOSEF STEINDL Brief von Frank G. Steindl an Josef Steindl ([1]) Brief ([1]) Biographical Information Frank G. Steindl ([2]
Steindl, Frank G.
core   +1 more source

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. [PDF]

Brain, 2023
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M.   +85 more
europepmc   +1 more source

Brief von Josef Steindl an Unbekannt

BRIEF VON JOSEF STEINDL AN UNBEKANNT Brief von Josef Steindl an Unbekannt ([1]
Steindl, Josef
core   +1 more source

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. [PDF]

Hum Genet, 2021
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V, Undiagnosed Diseases Network, Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C.   +44 more
europepmc   +1 more source

Brief von Josef Steindl an Keith Povey

BRIEF VON JOSEF STEINDL AN KEITH POVEY Brief von Josef Steindl an Keith Povey ([1]
Steindl, Josef
core   +1 more source

Brief von Josef Steindl an K. Czarnecki

BRIEF VON JOSEF STEINDL AN K. CZARNECKI Brief von Josef Steindl an K. Czarnecki ([1]
Steindl, Josef
core