Results 161 to 170 of about 48,814 (291)

Thrombocytopenia in patients with inborn errors of immunity. [PDF]

BMC Immunol
Fekrvand S, Mohtashami M, Sanadgol N, Salehi H, Fard NNG, Afkham EK, Chavoshzadeh Z, Parvaneh N, Mahdaviani SA, Sharafian S, Barzamini S, Ahanchian H, Kalantari A, Shafiei A, Tavakol M, Abolnezhadian F, Rad MK, Hassanpour G, Cheraghi T, Farid AS, Delavari S, Abolhassani H, Rezaei N, Yazdani R.   +23 more
europepmc   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

Inborn anemias in mice. Comprehensive progress report to accompany twenty-first renewal proposal, 1 May 1973--30 April 1976

, 1976
Elizabeth S. Russell, S E Bernstein
openalex   +2 more sources

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry [PDF]

, 1995
Mohamed S. Rashed, Pinar T. Ozand, Martin P. Bucknall, Douglas Little   +3 more
openalex   +1 more source

Malignancy and Autoimmune Susceptibility in Adult Patients with Human Inborn Errors of Immunity. [PDF]

J Clin Immunol
Segura-Tudela A, Nieto-López C, Bermejo-Olivera FJ, Andara LA, Arroyo-Ródenas J, Dueñas-Prieto L, Alfocea-Molina Á, Paz-Artal E, Pleguezuelo D, Cabrera-Marante O, Allende LM.   +10 more
europepmc   +1 more source

Trends in U.S. National Institutes of Health Funding for CHARGE Syndrome Research, 2000 to 2024

American Journal of Medical Genetics Part A, EarlyView.
Muhammad Othman, Lillian J. Slavin, Tyler G. James   +2 more
wiley   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Retraction notice to “Case-control study about the acceptance of Pegvaliase in Phenylketonuria” Molecular Genetics and Metabolism Reports 22 (2020) 100557.

Molecular Genetics and Metabolism Reports, 2021
Johannes Krämer
doaj   +1 more source

Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis [PDF]

, 1997
Sylvia Stöckler, Bart Marescau, P.R. De Deyn, J.M.F. Trijbels, F. Hanefeld   +4 more
openalex   +1 more source

Correction to: Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI). [PDF]

J Clin Immunol
Fox TA, Massey V, Lever C, Pearce R, Laurence A, Grace S, Oliviero F, Workman S, Symes A, Lowe DM, Fiaccadori V, Hough R, Tadros S, Burns SO, Seidel MG, Carpenter B, Morris EC.   +16 more
europepmc   +1 more source