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Clinical applications of capillary electrophoresis methods and protocols
Clinical applications of capillary electrophoresis methods and protocols
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Clinical applications of capillary electrophoresis methods and protocols

Terry M Phillips; Heather Kalish

New York Humana Press Springer c2013

Localização: CQ - Conjunto das Químicas    (616.0756 C6416 )(Acessar)

2
Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia
Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia
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Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia

Bernabeu, Carmelo ; Bayrak-Toydemir, Pinar ; McDonald, Jamie ; Letarte, Michelle

Journal of clinical medicine, 2020-11, Vol.9 (11), p.3571 [Periódico revisado por pares]

Basel: MDPI AG

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3
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing
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Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing

Zhao, Jian ; Longo, Nicola ; Lewis, Robert G. ; Nicholas, Thomas J. ; Boyden, Steven E. ; Andrews, Ashley ; Larson, Austin ; Bayrak‐Toydemir, Pinar ; Botto, Lorenzo D. ; Mao, Rong

American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63516-n/a [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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4
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome
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RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome

Macmurdo, Colleen F. ; Wooderchak-Donahue, Whitney ; Bayrak-Toydemir, Pinar ; Le, Jenny ; Wallenstein, Matthew B. ; Milla, Carlos ; Teng, Joyce M. C. ; Bernstein, Jonathan A. ; Stevenson, David A.

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1450-1454 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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5
Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome
Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome
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Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome

Carlston, Colleen M. ; Bleyl, Steven B. ; Andrews, Ashley ; Meyers, Lindsay ; Brown, Sara ; Bayrak‐Toydemir, Pinar ; Bale, James F. ; Botto, Lorenzo D.

American journal of medical genetics. Part A, 2019-05, Vol.179 (5), p.792-796 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Effective variant filtering and expected candidate variant yield in studies of rare human disease
Effective variant filtering and expected candidate variant yield in studies of rare human disease
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Effective variant filtering and expected candidate variant yield in studies of rare human disease

Pedersen, Brent S ; Brown, Joe M ; Dashnow, Harriet ; Wallace, Amelia D ; Velinder, Matt ; Tristani-Firouzi, Martin ; Schiffman, Joshua D ; Tvrdik, Tatiana ; Mao, Rong ; Best, D Hunter ; Bayrak-Toydemir, Pinar ; Quinlan, Aaron R

Npj genomic medicine, 2021-07, Vol.6 (1), p.60-60, Article 60 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease
Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease
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Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

Bean, Lora ; Bayrak-Toydemir, Pinar

Genetics in medicine, 2021-12, Vol.23 (12), p.2461-2461 [Periódico revisado por pares]

United States: Elsevier Limited

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8
Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia
Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia
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Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia

Ruiz-Llorente, Lidia ; McDonald, Jamie ; Wooderchak-Donahue, Whitney ; Briggs, Eric ; Chesnutt, Mark ; Bayrak-Toydemir, Pinar ; Bernabeu, Carmelo

Journal of human genetics, 2019-04, Vol.64 (4), p.333-339 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis
Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis
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Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis

McDonald, Jamie ; Bayrak-Toydemir, Pinar ; Pyeritz, Reed E.

Genetics in medicine, 2011-07, Vol.13 (7), p.607-616 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)
Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)
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Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)

McDonald, Jamie ; Bayrak-Toydemir, Pinar ; DeMille, Desiree ; Wooderchak-Donahue, Whitney ; Whitehead, Kevin

Genetics in medicine, 2020-07, Vol.22 (7), p.1201-1205 [Periódico revisado por pares]

United States: Elsevier Limited

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Deste Autor:

  1. Kalish, H
  2. Phillips, T

Neste Assunto:

  1. Science & Technology
  2. Life Sciences & Biomedicine
  3. Humans
  4. Genetics & Heredity
  5. Female

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