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Baraitser–Winter cerebrofrontofacial syndrome

Clinical genetics, 2017-07, Vol.92 (1), p.3-9

2017

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Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome

American journal of neuroradiology : AJNR, 2022-11, Vol.43 (11), p.1660-1666

2022

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Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature

Journal of medical genetics, 2017-08, Vol.54 (8), p.537-543

2017

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The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

Autophagy, 2018-01, Vol.14 (1), p.22-37

2018

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LIS1 and XLIS (DCX) Mutations Cause Most Classical Lissencephaly, but Different Patterns of Malformation

Human molecular genetics, 1998-12, Vol.7 (13), p.2029-2037

1998

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Deletion of BDNF in Pax2 Lineage-Derived Interneuron Precursors in the Hindbrain Hampers the Proportion of Excitation/Inhibition, Learning, and Behavior

Frontiers in molecular neuroscience, 2021-03, Vol.14, p.642679-642679

2021

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DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation

Clinical genetics, 2016-06, Vol.89 (6), p.724-727

2016

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GC-B Deficient Mice With Axon Bifurcation Loss Exhibit Compromised Auditory Processing

Frontiers in neural circuits, 2018-08, Vol.12, p.65-65

2018

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Synaptic depression and short-term habituation are located in the sensory part of the mammalian startle pathway

BMC neuroscience, 2006-05, Vol.7 (1), p.38-38, Article 38

2006

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Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

Neurology, 1999-07, Vol.53 (2), p.270-270

1999

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High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosis

Journal of medical genetics, 2008-06, Vol.45 (6), p.355-361

2008

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Echolocation by two foraging harbour porpoises (Phocoena phocoena)

Journal of experimental biology, 2009-03, Vol.212 (Pt 6), p.823-834

2009

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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Journal of medical genetics, 2006-05, Vol.43 (5), p.451-456

2006

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Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1

Human molecular genetics, 1999-09, Vol.8 (9), p.1757-1760

1999

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G150 Aetiological investigations and treatment outcomes in a prospective population-based cohort of children with epilepsy <3 years

Archives of disease in childhood, 2019-05, Vol.104 (Suppl 2), p.A61

2019

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Acoustic startle and prepulse inhibition in the Mongolian gerbil

Physiology & behavior, 2009-10, Vol.98 (4), p.460-466

2009

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Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

American journal of human genetics, 2003-04, Vol.72 (4), p.918-930

2003

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Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype

American journal of medical genetics. Part A, 2008-12, Vol.146A (24), p.3173-3180

2008

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Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections

Journal of medical genetics, 2006-02, Vol.43 (2), p.143-147

2006

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Identification of five novel SPRED1 germline mutations in Legius syndrome

Clinical genetics, 2011-07, Vol.80 (1), p.93-96

2011

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Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome

American journal of human genetics, 2006-04, Vol.78 (4), p.702-707

2006

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Folded reflectarray antenna

Electronics letters, 1998-04, Vol.34 (9), p.832-833

1998

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Neuronal Migration, Cerebral Cortical Development, and Cerebral Cortical Anomalies

Journal of neuropathology and experimental neurology, 2002-01, Vol.61 (1), p.1-11

2002

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A 77-GHz FM/CW radar front-end with a low-profile low-loss printed antenna

IEEE transactions on microwave theory and techniques, 1999-12, Vol.47 (12), p.2237-2241

1999

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Large-scale discovery of novel genetic causes of developmental disorders

Nature (London), 2015-03, Vol.519 (7542), p.223-228

2015

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Baraitser–Winter cerebrofrontofacial syndrome

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

LIS1 and XLIS (DCX) Mutations Cause Most Classical Lissencephaly, but Different Patterns of Malformation

Deletion of BDNF in Pax2 Lineage-Derived Interneuron Precursors in the Hindbrain Hampers the Proportion of Excitation/Inhibition, Learning, and Behavior

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation

GC-B Deficient Mice With Axon Bifurcation Loss Exhibit Compromised Auditory Processing

Synaptic depression and short-term habituation are located in the sensory part of the mammalian startle pathway

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosis

Echolocation by two foraging harbour porpoises (Phocoena phocoena)

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1

G150 Aetiological investigations and treatment outcomes in a prospective population-based cohort of children with epilepsy <3 years

Acoustic startle and prepulse inhibition in the Mongolian gerbil

Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype

Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections

Identification of five novel SPRED1 germline mutations in Legius syndrome

Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome

Folded reflectarray antenna

Neuronal Migration, Cerebral Cortical Development, and Cerebral Cortical Anomalies

A 77-GHz FM/CW radar front-end with a low-profile low-loss printed antenna

Large-scale discovery of novel genetic causes of developmental disorders

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