Brock S, et.al. (2022) Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B. J Med Genet. Pubmed
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- Angelman Syndrome
- CAMK2 Syndrome
- Brain overgrowth syndromes
- Cortical malformation disorders
- Costello – CFC
- DNA repair disorders
- Dup15q Syndrome
- Fragile X Syndrome (FXS)
- GRIN Syndrome
- Neurofibromatosis type 1 (NF1)
- Sturge – Weber
- SYNGAP1 Syndrome
- Tuberous sclerosis complex (TSC)
- UNIQUE (rare autism spectrum disorders)
- Preclinical research
- Angelman Syndrome
- CAMK2 Syndrome
- Brain overgrowth syndromes
- Cortical malformation disorders
- Costello – CFC
- DNA repair disorders
- Dup15q Syndrome
- Fragiele X Syndroom
- GRIN Syndrome
- Neurofibromatosis type 1 (NF1)
- Sturge – Weber
- SYNGAP1 Syndrome
- Tuberous sclerosis complex (TSC)
- UNIQUE (rare autism spectrum disorders)
- Publications
- Angelman Syndrome
- CAMK2 Syndrome
- Brain overgrowth syndromes
- Cortical malformation disorders
- Costello – CFC
- DNA repair disorders
- Dup15q Syndrome
- Fragiele X Syndroom
- GRIN Syndrome
- Neurofibromatosis type 1 (NF1)
- Sturge – Weber
- SYNGAP1 Syndrome
- Tuberous sclerosis complex (TSC)
- UNIQUE (rare autism spectrum disorders)
- Contact
- Home
- About ENCORE
- Patient Information
- About neurodevelopmental disorders
- Angelman Syndrome
- CAMK2 Syndrome
- Brain overgrowth syndromes
- Cortical malformation disorders
- Costello – CFC
- DNA repair disorders
- Dup15q Syndrome
- Fragile X Syndrome (FXS)
- GRIN Syndrome
- Neurofibromatosis type 1 (NF1)
- Sturge – weber
- SYNGAP1 Syndrome
- Tuberous sclerosis complex (TSC)
- UNIQUE (rare autism spectrum disorders)
- Clinical research
- Angelman Syndrome
- CAMK2 Syndrome
- Brain overgrowth syndromes
- Cortical malformation disorders
- Costello – CFC
- DNA repair disorders
- Dup15q Syndrome
- Fragile X Syndrome (FXS)
- GRIN Syndrome
- Neurofibromatosis type 1 (NF1)
- Sturge – Weber
- SYNGAP1 Syndrome
- Tuberous sclerosis complex (TSC)
- UNIQUE (rare autism spectrum disorders)
- Preclinical research
- Angelman Syndrome
- CAMK2 Syndrome
- Brain overgrowth syndromes
- Cortical malformation disorders
- Costello – CFC
- DNA repair disorders
- Dup15q Syndrome
- Fragiele X Syndroom
- GRIN Syndrome
- Neurofibromatosis type 1 (NF1)
- Sturge – Weber
- SYNGAP1 Syndrome
- Tuberous sclerosis complex (TSC)
- UNIQUE (rare autism spectrum disorders)
- Publications
- Angelman Syndrome
- CAMK2 Syndrome
- Brain overgrowth syndromes
- Cortical malformation disorders
- Costello – CFC
- DNA repair disorders
- Dup15q Syndrome
- Fragiele X Syndroom
- GRIN Syndrome
- Neurofibromatosis type 1 (NF1)
- Sturge – Weber
- SYNGAP1 Syndrome
- Tuberous sclerosis complex (TSC)
- UNIQUE (rare autism spectrum disorders)
- Contact