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Saima Kayani

3PUBLICATIONS

23CO-AUTHORS

Neurology and neuromuscular diseasesNeurosciences not elsewhere classified

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Publications (3)

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|Dec 20, 2024

Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.

Saima Kayani, Veronica BordesEdgar, Andrea Lowden

|Jul 09, 2024

Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills.

Saima Kayani, Veronica Bordes Edgar, Andrea Lowden

|Mar 18, 2024

Novel syndromic neurodevelopmental disorder caused by <i>de novo</i> deletion of <i>CHASERR</i>, a long noncoding RNA.

Vijay S Ganesh, Kevin Riquin, Nicolas Chatron

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Frequent Collaborators

1 joint publications

Vijay S Ganesh

1 joint publications

Kevin Riquin

1 joint publications

Nicolas Chatron

1 joint publications

Kay-Marie Lamar

1 joint publications

Pauline Monin

1 joint publications

Julia K Goodrich

1 joint publications

Kiran V Garimella

1 joint publications

Esther Yoon

1 joint publications

Ben Weisburd

1 joint publications

Francois Aguet

Frequent Collaborators

1 joint publications

Vijay S Ganesh

1 joint publications

Kevin Riquin

1 joint publications

Nicolas Chatron

1 joint publications

Kay-Marie Lamar

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