Results 161 to 170 of about 559,334 (337)
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher+6 more
wiley +1 more source
Variation in use of radiographs in chiropractic care: a cross-sectional study. [PDF]
Jensen RK+6 more
europepmc +1 more source
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa+4 more
wiley +1 more source
Is Kidney-Ureter-Bladder Radiography Still a Helpful Tool to Address Acute Ureteral Colic in Emergency Settings? [PDF]
Alkarajeh M+7 more
europepmc +1 more source
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff+8 more
wiley +1 more source
Motivational factors influencing radiography students' career choices: A survey study. [PDF]
Rawashdeh M+7 more
europepmc +1 more source
Radiographic Gastro-Intestinal Diagnosis—A Note of Warning [PDF]
J. Russell Verbrycke
openalex +1 more source
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger+3 more
wiley +1 more source