Results 101 to 110 of about 350,440 (325)
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond‐Blackfan Anemia Syndrome
American Journal of Hematology, EarlyView.Diamond‐Blackfan Anemia Syndrome (DBAS) is a congenital bone marrow failure disorder characterized by defective erythropoiesis and a spectrum of congenital anomalies, including craniofacial malformations, limb abnormalities, and cardiac and renal defects.
Paola Quarello +29 more
wiley +1 more source
Revista de la Facultad de Medicina, 2018 Introduction: Congenital craniofacial malformations have a major impact on the lives of children and their relatives when the face is compromised since they may present along with cognitive deficits or altered facial appearance.
Ximena Silva-Giraldo +1 more
doaj +1 more source
A Comparison of Infants Affected with Congenital Abnormalities Born in the Inpatient Clinic or Treated in the Outpatient Clinic of the Same Hospital in the United Arab Emirates [PDF]
, 1999 Hager Al Hosani +4 more
openalex +1 more source
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
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 +12 more
wiley +1 more source
Femoroacetabular Impingement (FAI) Syndrome : the medical imaging perspective [PDF]
, 2014 Introduction: Sports persons, physicians, orthopods and radiologists have become increasingly aware of the extra stress that is imposed on the hip joints with excessive activity particularly when superadded weight bearing and asymmetrical variations from
Zammit, Anthony
core
Clinical Presentation of a Patient with Congenital Cutis Laxa and Abnormal Thyroid Hormone Levels [PDF]
, 2014 Yan Ma +5 more
openalex +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 +2 more
wiley +1 more source
Laparoscopic ureteropyeloanastomosis in the treatment of duplex system
International Brazilian Journal of Urology, 2012 PURPOSE: Duplex system is one of the most common anomalies of upper urinary tract. Anatomical and clinical presentation determine its treatment. Usually, the upper moiety has a poor function and requires resection, but when it is not significantly ...
Marcelo Hisano +6 more
doaj +1 more source
Abnormal Congenital Location of Stapes’ Superstructure: Clinical and Embryological Implications [PDF]
, 2016 Vânia Henriques +8 more
openalex +1 more source