Results 211 to 220 of about 2,570,930 (351)
The 9th International RASopathies Symposium
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Renal Transplant in a Bardet-Biedl Syndrome Patient: A First Case From Azerbaijan. [PDF]
Sholan R +5 more
europepmc +1 more source
Long-term survival in renal transplant recipients with graft function.
A. Ojo +5 more
semanticscholar +1 more source
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Unilateral Weakness Caused By Spinal Cord Infarction in a Renal Transplant Recipient. [PDF]
Kim SB, Kim SM, Shin BS, Kang HG.
europepmc +1 more source
Cadaveric Renal transplantation with Cyclosporine: Experiences in 148 patients at a single institution. [PDF]
Castro, L. A. +10 more
core +1 more source

