S. Baer

发表

Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

A. Afenjar, N. Philip, D. Lacombe, 2018, Clinical genetics.

Genetic generalized epilepsy and generalized onset seizures with focal evolution (GOFE)

B. Gérard, V. Dinkelacker, E. Hirsch, 2022, Epilepsy & behavior reports.

Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes

J. Mandel, A. Piton, R. Coutelle, 2022, Clinical genetics.

Diagnostic and severity scores for Cockayne syndrome

N. Calmels, C. Obringer, V. Laugel, 2021, Orphanet Journal of Rare Diseases.

Molecular and clinical descriptions of patients with GABAA receptor gene variants ( GABRA1, GABRB2, GABRB3, GABRG2 ): A cohort study, review of literature, and genotype–phenotype correlation

R. Nabbout, D. Ville, B. Desnous, 2022, Epilepsia.

Growth charts in Cockayne syndrome type 1 and type 2.

M. Kubota, P. Kang, S. Mohammed, 2020, European journal of medical genetics.

Tick-borne encephalitis in pediatrics: an often overlooked diagnosis.

S. Fafi-Kremer, Y. Hansmann, M. Wendling, 2023, Infectious diseases now.

Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature

R. Favre, J. Chelly, N. Calmels, 2020, American journal of medical genetics. Part A.

Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10: A case report

D. Moshous, M. Fischbach, E. Schaefer, 2019, Pediatric blood & cancer.

Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling

S. Julia, T. Félix, J. Chelly, 2020, Clinical genetics.

Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions

H. Prokisch, J. Winkelmann, V. Mall, 2022, Annals of neurology.

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

R. Pfundt, J. Howe, H. Brunner, 2023, Human molecular genetics.

IL11RA‐related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences

D. Lacombe, C. Cabrol, A. Goldenberg, 2018, Clinical genetics.

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients

S. Julia, A. Afenjar, F. Lecoquierre, 2024, Journal of medical genetics.