Results 161 to 170 of about 145,893 (342)
Prenatal diagnosis of primary pulmonary hypoplasia in fraternal twins [PDF]
, 2009 Sharon Chen +5 more
openalex +1 more source
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome [PDF]
, 2020 INSERM
openalex +1 more source
Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review [PDF]
, 2022 Ivana Dabaj +7 more
openalex +1 more source
CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
Pediatric Investigation, EarlyView.Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo +18 more
wiley +1 more source
Prenatal ultrasound diagnosis of poland syndrome [PDF]
, 2004 D'ARMIENTO, MARIA +2 more
core +1 more source
Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)
World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery +43 more
wiley +1 more source
Spontaneous radial artery pseudoaneurysm in an infant due to idiopathic medial hypoplasia – a case report [PDF]
, 2019 William W. Kesler +2 more
openalex +1 more source