학술논문
'학술논문'
에서 검색결과 23건 | 목록
1~10
Academic Journal
Sissy Bassani; Jacqueline Chrast; Giovanna Ambrosini; Norine Voisin; Frédéric Schütz; Alfredo Brusco; Fabio Sirchia; Lydia Turban; Susanna Schubert; Rami Abou Jamra; Jan-Ulrich Schlump; Desiree DeMille; Pinar Bayrak-Toydemir; Gary Rex Nelson; Kristen Nicole Wong; Laura Duncan; Mackenzie Mosera; Christian Gilissen; Lisenka E. L. M. Vissers; Rolph Pfundt; Rogier Kersseboom; Hilde Yttervik; Geir Åsmund Myge Hansen; Marie Falkenberg Smeland; Kameryn M. Butler; Michael J. Lyons; Claudia M. B. Carvalho; Chaofan Zhang; James R. Lupski; Lorraine Potocki; Leticia Flores-Gallegos; Rodrigo Morales-Toquero; Florence Petit; Binnaz Yalcin; Annabelle Tuttle; Houda Zghal Elloumi; Lane McCormick; Mary Kukolich; Oliver Klaas; Judit Horvath; Marcello Scala; Michele Iacomino; Francesca Operto; Federico Zara; Karin Writzl; Aleš Maver; Maria K. Haanpää; Pia Pohjola; Harri Arikka; Anneke J. A. Kievit; Camilla Calandrini; Christian Iseli; Nicolas Guex; Alexandre Reymond
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Academic Journal
Lauren Bartik; Elena Repnikova; Eric Rush; Jennifer Roberts; Erin Baldwin; John Carey; Lorenzo Botto; John O'Shea; Ting Wen; Pinar Bayrak-Toydemir; Rong Mao; Undiagnosed Diseases Network; Bonnie Sullivan
Genetics in Medicine Open, Vol 2, Iss , Pp 101292- (2024)
Academic Journal
Robert Lewis; Makenzie Fulmer; Jian Zhao; Lucilla Pizzo; Ting Wen; John O'Shea; Thomas Nicholas; Steven Boyden; David Viskochil; Nicola Longo; Ashley Andrews; Erin Baldwin; Matt Velinder; Russell Butterfield; Karin Dent; Kourtney Santucci; Austin Larson; Rong Mao; Lorenzo Botto; Pinar Bayrak-Toydemir
Genetics in Medicine Open, Vol 2, Iss , Pp 101470- (2024)
Academic Journal
BMC Bioinformatics, Vol 23, Iss 1, Pp 1-32 (2022)
P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care
Academic Journal
Sabrina Malone-Jenkins; Brian Shayota; Chelsea Solorzano; Rachel Palmquist; Steven Boyden; Barry Moore; Thomas Nicholas; Rong Mao; Pinar Bayrak-Toydemir; Katherine Noble; Andrew Farrell; Edgar Hernandez; Shawn Rynearson; Carson Holt; Alistair Ward; Najla Al-Sweel; Jian Zhao; Makenzie Fulmer; Lucilla Pizzo; Ting Wen; John O'Shea; Robert Lewis; Hayley Reynolds; Eric Fredrickson; Kelsey Nicholson; David Pattison; Hunter Best; Luca Brunelli; Mark Yandell; Gabor Marth; Aaron Quinlan; John Carey; Martin Tristani-Firouzi; Joshua Bonkowsky
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100271- (2023)
Academic Journal
Matthew Lebo; Marcie Steeves; Katherine Benson; Laura Conlin; Mythily Ganapathi; Vaidehi Jobanputra; Minjie Luo; Deqiong Ma; Kelly McGoldrick; Blake Palculict; Heidi Rehm; Panagiotis Sergouniotis; Samantha Schilit; Pinar Bayrak-Toydemir; Tatiana Tvrdik; Nicholas Watkins; Lauren Zec; Wenying Zhang Zhang; Ryan Schmidt
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100457- (2023)
Academic Journal
Makenzie Fulmer; Matt Velinder; Ashley Andrews; Russell Butterfield; Rong Mao; Kourtney Santucci; Lorenzo Botto; Pinar Bayrak-Toydemir
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100509- (2023)
Academic Journal
Robert Lewis; David Viskochil; Ashley Andrews; Karin Dent; Rong Mao; Lorenzo Botto; Pinar Bayrak-Toydemir
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100546- (2023)
Academic Journal
Barry Moore; Thomas Nicholas; Rong Mao; Brian Shayota; Steven Boyden; Chelsea Solorzano; Rachel Palmquist; Pinar Bayrak-Toydemir; Katherine Noble; Andrew Farrell; Edgar Hernandez; Shawn Rynearson; Carson Holt; Alistair Ward; Eric Fredrickson; Kelsey Nicholson; David Pattison; Jian Zhao; Makenzie Fulmer; Lucilla Pizzo; Ting Wen; John O'Shea; Robert Lewis; Hayley Reynolds; Betsy Ostrander; Hunter Best; Luca Brunelli; Mark Yandell; Gabor Marth; Aaron Quinlan; John Carey; Martin Tristani-Firouzi; Joshua Bonkowsky; Sabrina Malone-Jenkins
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100563- (2023)
Academic Journal
John O'Shea; Jian Zhao; Pinar Bayrak-Toydemir; David Viskochil; Ashley Andrews; Lorenzo Botto; Rong Mao
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100571- (2023)
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[AR] Pinar Bayrak‐Toydemir
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