Results 151 to 160 of about 48,814 (291)

Interpreting whole-genome sequencing data during neonatal Klebsiella oxytoca complex outbreak management. [PDF]

Antimicrob Resist Infect Control
Minotti C, Robinson E, Schlaepfer P, Pohl C, Goldenberger D, Schulzke SM, Keller PM, Bielicki JA.   +7 more
europepmc   +1 more source

Sacroiliac Joint Involvement: An Underreported Complication of NF1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NF1‐related bone dysplasia in children and young adults with neurofibromatosis type 1 (NF1) involving the sacroiliac joint has been rarely described. We report four participants who underwent whole‐body magnetic resonance imaging (WB‐MRI) as part of a longitudinal imaging and plexiform neurofibroma (PN) biomarker study (NCT05238909) at Ann ...
Jenny P. Garzon, Eva Dombi, Jonathan Samet, Maria P. Silva, Carolyn R. Raski, Michael Sawin, Carlos E. Prada   +6 more
wiley   +1 more source

Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism. [PDF]

, 1990
Marie S. Buchmann, E. A. Kvittingen, Hisham M. Nazer, Thirumazhisai S. Gunasekaran, Peter T. Clayton, Jan Sjövall, Ingemar Björkhem   +6 more
openalex   +1 more source

Reducing Time to Initiation of Therapeutic Hypothermia in Inborn Infants with Hypoxic-ischemic Encephalopathy. [PDF]

Pediatr Qual Saf
Carlson A, Vale A, Bell T, Limpose K, Piazza A, Sewell EK.   +5 more
europepmc   +1 more source

TBX3‐ Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Selective screening for inborn errors of metabolism-past, present and future [PDF]

, 1994
Gustav Hoffmann
openalex   +1 more source

Endocrine Disorders in Patients With Inborn Errors of Immunity. [PDF]

J Korean Med Sci
Noh ES, Kim DR, Im M, Kim I, Sung J, Ahn YJ, Shin A, Kim KR, Park H, Kim G, Jin SM, Hur KY, Kim J, Ahn K, Yoo KH, Cho SY, Kim YJ.   +16 more
europepmc   +1 more source

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

INBORN ANEMIAS IN MICE. Progress Report, May 1, 1971--April 30, 1972.

, 1972
Elizabeth S. Russell, S E Bernstein
openalex   +2 more sources

Inborn errors of metabolism (IEM) revealed by Reye's syndrome (RS) [PDF]

, 1992
Michaël Fayon
openalex   +1 more source