Results 211 to 220 of about 2,570,930 (351)

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

Barriers to Renal Transplant in Pakistan. [PDF]

open access: yesCureus
Afzal A   +8 more
europepmc   +1 more source

Cutting Edge: Immunological Consequences and Trafficking of Human Regulatory Macrophages Administered to Renal Transplant Recipients

open access: yesJournal of Immunology, 2011
James A. Hutchinson   +22 more
semanticscholar   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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]

open access: yesCase Rep Med
Sholan R   +5 more
europepmc   +1 more source

Long-term survival in renal transplant recipients with graft function.

open access: yesKidney International, 2000
A. Ojo   +5 more
semanticscholar   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

Cadaveric Renal transplantation with Cyclosporine: Experiences in 148 patients at a single institution. [PDF]

open access: yes, 1983
Castro, L. A.   +10 more
core   +1 more source

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