Results 131 to 140 of about 122,438 (258)

Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review

Fatimah Diana Amin Nordin, Affandi Omar, Balqis Kamarudin, Timothy Simpson, Julaina Abdul Jalil, Yuh Fen Pung   +5 more
openalex   +1 more source

Cutaneous Manifestations of Inborn Errors of Immunity: Clinical Clues to Immune Disorders. [PDF]

Medicina (Kaunas)
Napiorkowska-Baran K, Pastuszczak M, Płocka-Karpińska M, Tykwińska M, Treichel P, Margossian GA, Margossian CL, Rogalska A, Czajkowski R.   +8 more
europepmc   +1 more source

Inborn errors of metabolism (IEM) and associated metabolic disturbances detected in a cohort of greek patients with autism spectrum disorder (ASD)

, 2012
Martha Spilitoti, Katerina Haidopoulou, E Frysira, Spyridon Metaxas-Armodoros, C. Jakobs, Sofia Spanou, Kathryn Gibson, Despoina Asprangathou, Athanasios Evangeliou, Ron A. Wevers, Eleni Bonti, Panagiotis Kardaras, Despoina Tramma, Aggelos Tsalkidis, Eleni Michailidi   +14 more
openalex   +1 more source

Type I interferonopathies: a novel set of inborn errors of immunity

, 2011
Yanick J. Crow
openalex   +2 more sources

Pre-vaccination immune signatures of children with inborn errors of immunity associate with COVID-19 vaccine response. [PDF]

Hum Vaccin Immunother
Palma P, Emili E, Pighi C, Colantoni N, Morrocchi E, Pascucci GR, Rivalta B, Rotulo GA, Rossetti C, Santilli V, Zangari P, Manno EC, Sanna M, Finocchi A, Cancrini C, Cicalese MP, Cenciarelli S, Cirillo E, Giardino G, Moschese V, Amodio D, Cotugno N.   +21 more
europepmc   +1 more source

Conservative management of placenta accreta spectrum disorders: a retrospective cohort study. [PDF]

BMC Pregnancy Childbirth
Dubé SB, Nguyen DB, Rocca CD, Smith JP, Mansour FW, Krishnamurthy S, Brown R, Zakhari A.   +7 more
europepmc   +1 more source

Diagnosis of inborn errors of metabolism through massive DNA sequencing: benefits and limitations [PDF]

Vianey Ordoñez‐Labastida, Juan Carlos Zenteno   +1 more
openalex   +1 more source

Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group [PDF]

, 2018
Simon Bomken, Jutte van der Werff ten Bosch, Andishe Attarbaschi, Chris M. Bacon, Arndt Borkhardt, Kaan Boztuǧ, Ute Fischer, Fabian Hauck, Roland P. Kuiper, Tim Lammens, Jan Loeffen, Bénédicte Neven, Qiang Pan‐Hammarström, Isabella Quinti, Markus G. Seidel, Klaus Warnatz, Claudia Wehr, Arjan C. Lankester, Andrew R. Gennery   +18 more
openalex   +1 more source

Predictive factors for severity and poor treatment response in children with Evans syndrome: A retrospective cohort study. [PDF]

Front Immunol
Ben Khaled M, Ben Ayed M, Zaroui Z, Ben Fraj I, Rekaya S, Mekki N, Chebbi Y, Ben Taieb A, Merdassi A, Zaiter I, Lamouchi T, Kouki R, Kaabi H, Slama H, Achour W, Bejaoui M, Mellouli F, Ben-Mustapha I, Ouederni M.   +18 more
europepmc   +1 more source

Clinical Insight of Cytokine Panel Testing in Patients with Inborn Errors of Immunity

Dayne Voelker, Avni Y. Joshi
openalex   +1 more source