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1
The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders
The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders
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The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders

Zepeda-Mendoza, Cinthya J. ; Morton, Cynthia C.

American journal of human genetics, 2019-04, Vol.104 (4), p.565-577 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting
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Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

Irfan Saadi Fowzan S Alkuraya; Stephen S Gisselbrecht; Wolfram Goessling; Resy Cavallesco; Annick Turbe-Doan; Aline L Petrin; James Harris; Ursela Siddiqui; Arthur W Grix Junior; Hanne D Hove; Philippe Leboulch; Thomas W Glover; Cynthia C Morton; Antonio Richieri-Costa; Jeffrey C Murray; Robert P Erickson; Richard L Maas

American Journal of Human Genetics Chicago v. 89, p. 44-55, July 2011

Chicago 2011

Item não circula. Consulte sua biblioteca.(Acessar)

3
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting
Material Type:
Artigo 		Adicionar ao Meu Espaço

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

Irfan Saadi Fowzan S Alkuraya; Stephen S Gisselbrecht; Wolfram Goessling; Resy Cavallesco; Annick Turbe-Doan; Aline L Petrin; James Harris; Ursela Siddiqui; Arthur W Grix Junior; Hanne D Hove; Philippe Leboulch; Thomas W Glover; Cynthia C Morton; Antonio Richieri-Costa; Jeffrey C Murray; Robert P Erickson; Richard L Maas

American Journal of Human Genetics Chicago v. 89, p. 44-55, July 2011

Chicago 2011

Item não circula. Consulte sua biblioteca.(Acessar)

4
ASHG 2020 Curt Stern Award introduction: Fowzan Sami Alkuraya
ASHG 2020 Curt Stern Award introduction: Fowzan Sami Alkuraya
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ASHG 2020 Curt Stern Award introduction: Fowzan Sami Alkuraya

Morton, Cynthia C.

American journal of human genetics, 2021-03, Vol.108 (3), p.392-394 [Periódico revisado por pares]

United States: Elsevier Inc

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5
RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
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RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

Dagan Jenkins Dominik Seelow; Fernanda Sarquis Jehee; Chad A Perlyn; Luís Garcia Alonso NAC; Daniela Franco Bueno; Dian Donnai; Dragana Josifiova; Irene M. J Mathijssen; Jenny E. V Morton; Karen Helene Orstavik; Elizabeth Sweeney; Steven A Wall; Jeffrey L Marsh; Peter Nürnberg; Maria Rita Passos-Bueno; Andrew O. M Wilkie

American Journal of Human Genetics v. 80, n. 6, p. 1162-1170, jun. 2007

Baltimore 2007

Item não circula. Consulte sua biblioteca.(Acessar)

6
Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research
Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research
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Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

Talkowski, Michael E. ; Ernst, Carl ; Heilbut, Adrian ; Chiang, Colby ; Hanscom, Carrie ; Lindgren, Amelia ; Kirby, Andrew ; Liu, Shangtao ; Muddukrishna, Bhavana ; Ohsumi, Toshiro K. ; Shen, Yiping ; Borowsky, Mark ; Daly, Mark J. ; Morton, Cynthia C. ; Gusella, James F.

American journal of human genetics, 2011-04, Vol.88 (4), p.469-481 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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7
Limitations of Chromosome Classification by Multicolor Karyotyping
Limitations of Chromosome Classification by Multicolor Karyotyping
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Limitations of Chromosome Classification by Multicolor Karyotyping

Lee, Charles ; Gisselsson, David ; Jin, Charlotte ; Nordgren, Ann ; Ferguson, David O. ; Blennow, Elisabeth ; Fletcher, Jonathan A. ; Morton, Cynthia C.

American journal of human genetics, 2001-04, Vol.68 (4), p.1043-1047 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting
Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting
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Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

Saadi, Irfan ; Alkuraya, Fowzan S. ; Gisselbrecht, Stephen S. ; Goessling, Wolfram ; Cavallesco, Resy ; Turbe-Doan, Annick ; Petrin, Aline L. ; Harris, James ; Siddiqui, Ursela ; Grix, Arthur W. ; Hove, Hanne D. ; Leboulch, Philippe ; Glover, Thomas W. ; Morton, Cynthia C. ; Richieri-Costa, Antonio ; Murray, Jeffrey C. ; Erickson, Robert P. ; Maas, Richard L.

American journal of human genetics, 2011-07, Vol.89 (1), p.44-55 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
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Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

Ordulu, Zehra ; Kammin, Tammy ; Brand, Harrison ; Pillalamarri, Vamsee ; Redin, Claire E. ; Collins, Ryan L. ; Blumenthal, Ian ; Hanscom, Carrie ; Pereira, Shahrin ; Bradley, India ; Crandall, Barbara F. ; Gerrol, Pamela ; Hayden, Mark A. ; Hussain, Naveed ; Kanengisser-Pines, Bibi ; Kantarci, Sibel ; Levy, Brynn ; Macera, Michael J. ; Quintero-Rivera, Fabiola ; Spiegel, Erica ; Stevens, Blair ; Ulm, Janet E. ; Warburton, Dorothy ; Wilkins-Haug, Louise E. ; Yachelevich, Naomi ; Gusella, James F. ; Talkowski, Michael E. ; Morton, Cynthia C.

American journal of human genetics, 2016-11, Vol.99 (5), p.1015-1033 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature
Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature
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Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature

Ordulu, Zehra ; Wong, Kristen E. ; Currall, Benjamin B. ; Ivanov, Andrew R. ; Pereira, Shahrin ; Althari, Sara ; Gusella, James F. ; Talkowski, Michael E. ; Morton, Cynthia C.

American journal of human genetics, 2014-05, Vol.94 (5), p.695-709 [Periódico revisado por pares]

United States: Elsevier Inc

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Deste Autor:

  1. Orstavik, K
  2. Wall, S
  3. Leboulch, P
  4. Perlyn, C
  5. Murray, J

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Biological And Medical Sciences

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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