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Publications by Anand K. Saggar

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

American Journal of Human Genetics
Genetics
2012English

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Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

American Journal of Human Genetics
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2004English

De Novo NIPBL Mutations in Vietnamese Patients With Cornelia De Lange Syndrome

Medicina
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2020English

LRIG2 Mutations Cause Urofacial Syndrome

American Journal of Human Genetics
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2013English

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

American Journal of Human Genetics
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2018English

Beckwith-Wiedemann Syndrome

2004English

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

American Journal of Human Genetics
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2014English

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

American Journal of Human Genetics
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2001English

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

American Journal of Human Genetics
Genetics
2019English

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

American Journal of Human Genetics
Genetics
2013English

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