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A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria
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A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria

Salokivi, Tommi ; Parkkola, Riitta ; Rajendran, Yasmin ; Bharadwaj, Thashi ; Acharya, Anushree ; Leal, Suzanne M ; Järvelä, Irma ; Arvio, Maria ; Schrauwen, Isabelle

American journal of medical genetics. Part A, 2024, Vol.194 (4), p.e63478-e63478

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2
Coronary Stent Abscess in the Setting of Arteriovenous Graft Infection following COVID-19: An Autopsy Case Report
Coronary Stent Abscess in the Setting of Arteriovenous Graft Infection following COVID-19: An Autopsy Case Report
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Coronary Stent Abscess in the Setting of Arteriovenous Graft Infection following COVID-19: An Autopsy Case Report

Butler, Jean Thompson ; Chellappan, Rajeshwari ; Litovsky, Silvio ; Leal, Sixto M ; Benson, Paul V

Case reports in pathology, 2023, Vol.2023, p.9998749-9998749

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3
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment
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Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment

Liaqat, Khurram ; Bharadwaj, Thashi ; Shah, Khadim ; Nasir, Abdul ; Acharya, Anushree ; Khan, Saadullah ; Ullah, Irfan ; Schrauwen, Isabelle ; Ahmad, Wasim ; Leal, Suzanne M

Clinical genetics, 2023, Vol.104 (4), p.499-501

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4
Congenital adactyly and oligodactyly with metatarsal hypoplasia in two rhesus monkeys
Congenital adactyly and oligodactyly with metatarsal hypoplasia in two rhesus monkeys
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Congenital adactyly and oligodactyly with metatarsal hypoplasia in two rhesus monkeys

Meireles, Bárbara C S ; Goldschmidt, Beatriz ; Leal, Gabriel M ; Dias, Fabiano ; Cordeiro, Natalia F ; Filho, Paulo R F ; Barros, Marllus L

Journal of medical primatology, 2023, Vol.52 (3), p.205-209

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5
Cytologic Contamination of the Sampling Needle in Endobronchial Ultrasound
Cytologic Contamination of the Sampling Needle in Endobronchial Ultrasound
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Cytologic Contamination of the Sampling Needle in Endobronchial Ultrasound

Tirapu Puyal, J M ; Múgica Atorrasagasti, N ; Leal Arranz, M V ; Santana Astudillo, J C ; Lopez Duque, J C ; Ortega Comunian, L ; Rezola Bajineta, M ; Segues Merino, N

Archivos de bronconeumologia, 2022, Vol.58 (4), p.367-368

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6
Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family
Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family
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Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

Liaqat, Khurram ; Hussain, Shabir ; Acharya, Anushree ; Nasir, Abdul ; Bharadwaj, Thashi ; Ansar, Muhammad ; Basit, Sulman ; Schrauwen, Isabelle ; Ahmad, Wasim ; Leal, Suzanne M

Genes, 2022, Vol.13 (4)

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7
Electric blanket induced erythema ab igne
Electric blanket induced erythema ab igne
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Electric blanket induced erythema ab igne

Leal-Lobato, M M ; Blasco-Morente, G

Semergen, 2015, Vol.41 (8), p.456-457

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8
A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes
A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes
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A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

Lindquist, Nathan R ; Appelbaum, Eric N ; Acharya, Anushree ; Vrabec, Jeffrey T ; Leal, Suzanne M ; Schrauwen, Isabelle

Case reports in genetics, 2019, Vol.2019, p.2836263-2836263

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9
Disseminated Metacestode Versteria Species Infection in Woman, Pennsylvania, USA1
Disseminated Metacestode Versteria Species Infection in Woman, Pennsylvania, USA1
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Disseminated Metacestode Versteria Species Infection in Woman, Pennsylvania, USA1

Lehman, Bethany ; Leal, Sixto M ; Procop, Gary W ; O'Connell, Elise ; Shaik, Jahangheer ; Nash, Theodore E ; Nutman, Thomas B ; Jones, Stephen ; Braunthal, Stephanie ; Shah, Shetal N ; Cruise, Michael W ; Mukhopadhyay, Sanjay ; Banzon, Jona

Emerging infectious diseases, 2019, Vol.25 (7), p.1429-1431

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10
Biodiversity surveys of Bugoma forest reserve, smaller central forest reserves, and corridor forests south of Bugoma
Biodiversity surveys of Bugoma forest reserve, smaller central forest reserves, and corridor forests south of Bugoma
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Biodiversity surveys of Bugoma forest reserve, smaller central forest reserves, and corridor forests south of Bugoma

Plumptre, A ; Akwetaireho, S ; Hänni, D C ; Leal, M ; Mutungire, N ; Kyamanywa, J ; Tumuhamye, D ; Ayebale, J ; Isoke, S

the Jane Goodall Institute 2010

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