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Underlying Genetic Diagnosis of Pierre Robin Sequence: Retrospective Chart Review at Two Children’s Hospitals and a Systematic Literature Review

The Journal of pediatrics, 2012-04, Vol.160 (4), p.645-650.e2

2012

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The Routledge Handbook of Multilingualism

1, 2012

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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

American journal of human genetics, 2018-10, Vol.103 (4), p.602-611

2018

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Health Supervision for People With Achondroplasia

Pediatrics (Evanston), 2020-06, Vol.145 (6), p.1

2020

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A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis–lymphedema–telangiectasia syndrome

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2824-2828

2018

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The Cost of Serious Fall-Related Injuries at Three Midwestern Hospitals

Joint Commission journal on quality and patient safety, 2011-02, Vol.37 (2), p.81-87

2011

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Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

European journal of human genetics : EJHG, 2018-09, Vol.26 (9), p.1272-1281

2018

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Further delineation of the CWC27‐associated spliceosomeopathy: Case report and review of the literature

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1378-1383

2023

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Multilingualism, Discourse and Ethnography

Multilingualism, Discourse, and Ethnography, 2012, Vol.3

1, 2012

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Artificial Urinary Sphincter Complications: A Narrative Review

Journal of clinical medicine, 2024-04, Vol.13 (7), p.1913

2024

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X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

PLoS genetics, 2021-06, Vol.17 (6), p.e1009608-e1009608

2021

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Researching Multilingualism: Critical and ethnographic perspectives

1, 2016

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Memory Deficits after Resection from Left or Right Anterior Temporal Lobe in Humans: A Meta‐Analytic Review

Epilepsia (Copenhagen), 2002-03, Vol.43 (3), p.283-291

2002

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Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.946-951

2017

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Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions

Prenatal diagnosis, 2024-02, Vol.44 (2), p.237-246

2024

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Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Pediatrics (Evanston), 2021-01, Vol.147 (1), p.1

2021

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Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review

Clinical dysmorphology, 2019-10, Vol.28 (4), p.175-183

2019

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Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.930-940

2023

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A fetal diagnostic center's referral rate for perinatal palliative care

Annals of palliative medicine, 2018-04, Vol.7 (2), p.177-185

2018

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Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder

Genetics in medicine, 2017-10, Vol.19 (10), p.1179-1183

2017

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Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

European journal of human genetics : EJHG, 2015-05, Vol.23 (5), p.663-671

2015

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The neuronal substrates of human olfactory based kin recognition

Human brain mapping, 2009-08, Vol.30 (8), p.2571-2580

2009

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Risk factors for surgical site infection in spinal surgery

Journal of neurosurgery, 2003-03, Vol.98 (2 Suppl), p.149-155

2003

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Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.992-998

2016

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Ghrelin Enhances Food Odor Conditioning in Healthy Humans: An fMRI Study

Cell reports (Cambridge), 2018-12, Vol.25 (10), p.2643-2652.e4

2018

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Underlying Genetic Diagnosis of Pierre Robin Sequence: Retrospective Chart Review at Two Children’s Hospitals and a Systematic Literature Review

The Routledge Handbook of Multilingualism

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

Health Supervision for People With Achondroplasia

A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis–lymphedema–telangiectasia syndrome

The Cost of Serious Fall-Related Injuries at Three Midwestern Hospitals

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

Further delineation of the CWC27‐associated spliceosomeopathy: Case report and review of the literature

Multilingualism, Discourse and Ethnography

Artificial Urinary Sphincter Complications: A Narrative Review

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

Researching Multilingualism: Critical and ethnographic perspectives

Memory Deficits after Resection from Left or Right Anterior Temporal Lobe in Humans: A Meta‐Analytic Review

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions

Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing

A fetal diagnostic center's referral rate for perinatal palliative care

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

The neuronal substrates of human olfactory based kin recognition

Risk factors for surgical site infection in spinal surgery

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

Ghrelin Enhances Food Odor Conditioning in Healthy Humans: An fMRI Study

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