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New research by Sumeda Nandadasa, PhD, reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, ...
Jim FessendenUMass Chan Medical SchoolNew research by Sumeda Nandadasa, PhD, reveals how a key protein associated with Meckel-Gruber syndrome ...
New research by Sumeda Nandadasa, Ph.D., reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, ...
Table 2. Follow-up Studies of Infants and Children With Joubert Syndrome [4,5,8,11,31,35,37] Author/Year Type of Study Sample Size Life Span Cognitive Development ...
The original case of Joubert syndrome was followed for 30 years. At 30 years of age, this man had severe dysarthria, but the hyperpnea and apnea had diminished. His abnormal eye movements were ...