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Refinado por: Nome da Publicação: Clinical Genetics remover
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1
Richieri-Costa-Pereira syndrome expanding its phenotypicand genotypic spectrum
Richieri-Costa-Pereira syndrome expanding its phenotypicand genotypic spectrum
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Richieri-Costa-Pereira syndrome expanding its phenotypicand genotypic spectrum

D R Bertola G Hsia; L Alvizi; A Gardham; E. L Wakeling; G. L Yamamoto; R. S Honjo; L. A. N Oliveira; R. C. Di Francesco; B A Perez; C A Kim; Maria Rita Passos-Bueno

Clinical Genetics Hoboken online, p. 1-12, Feb. 2018

Hoboken 2018

Localização: FM - Fac. Medicina    (OPI 26383 2018 )(Acessar)

2
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
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Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Clarke, Lorne A. ; Giugliani, Roberto ; Guffon, Nathalie ; Jones, Simon A. ; Keenan, Hillary A. ; Munoz‐Rojas, Maria V. ; Okuyama, Torayuki ; Viskochil, David ; Whitley, Chester B. ; Wijburg, Frits A. ; Muenzer, Joseph

Clinical genetics, 2019-10, Vol.96 (4), p.281-289 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering
Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering
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Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering

Dana, Jérémy ; Dorval, Guillaume ; Martin, Christine Saint ; Belhous, Kahina ; Levy, Raphael ; Marlin, Sandrine ; De Bie, Isabelle ; Mautret‐Godefroy, Manon ; Rausell, Antonio ; Rio, Marlène ; Boucher‐Brischoux, Elise ; Attié‐Bitach, Tania ; Boddaert, Nathalie ; Pingault, Véronique

Clinical genetics, 2023-10, Vol.104 (4), p.466-471 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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4
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations
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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations

Ader, Flavie ; De Groote, Pascal ; Réant, Patricia ; Rooryck‐Thambo, Caroline ; Dupin‐Deguine, Delphine ; Rambaud, Caroline ; Khraiche, Diala ; Perret, Claire ; Pruny, Jean François ; Mathieu‐Dramard, Michèle ; Gérard, Marion ; Troadec, Yann ; Gouya, Laurent ; Jeunemaitre, Xavier ; Van Maldergem, Lionel ; Hagège, Albert ; Villard, Eric ; Charron, Philippe ; Richard, Pascale

Clinical genetics, 2019-10, Vol.96 (4), p.317-329 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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5
Genotype‐phenotype study in patients with valosin‐containing protein mutations associated with multisystem proteinopathy
Genotype‐phenotype study in patients with valosin‐containing protein mutations associated with multisystem proteinopathy
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Genotype‐phenotype study in patients with valosin‐containing protein mutations associated with multisystem proteinopathy

Al‐Obeidi, E. ; Al‐Tahan, S. ; Surampalli, A. ; Goyal, N. ; Wang, A.K. ; Hermann, A. ; Omizo, M. ; Smith, C. ; Mozaffar, T. ; Kimonis, V.

Clinical genetics, 2018-01, Vol.93 (1), p.119-125 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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6
Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR
Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR
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Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR

Gao, Shanshan ; Wu, Dongping ; Liu, Shuai ; Shen, Yanlong ; Zhao, Zhehao ; Wang, Yanhua ; Kong, Xiangdong

Clinical genetics, 2023-07, Vol.104 (1), p.90-99 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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7
Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients
Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients
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Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients

Beheshtian, Maryam ; Akhtarkhavari, Tara ; Mehvari, Sepideh ; Mohseni, Marzieh ; Fattahi, Zohreh ; Abedini, Seyedeh Sedigheh ; Arzhangi, Sanaz ; Fadaee, Mahsa ; Jamali, Payman ; Najafipour, Reza ; Kalscheuer, Vera M. ; Hu, Hao ; Ropers, Hans‐Hilger ; Najmabadi, Hossein ; Kahrizi, Kimia

Clinical genetics, 2021-01, Vol.99 (1), p.187-192 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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8
Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset
Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset
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Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset

MacKay, Conor I. ; Wong, Kingsley ; Demarest, Scott T. ; Benke, Tim A. ; Downs, Jenny ; Leonard, Helen

Clinical genetics, 2021-01, Vol.99 (1), p.157-165 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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9
Spectrum of ATP7B mutations and genotype–phenotype correlation in large‐scale Chinese patients with Wilson Disease
Spectrum of ATP7B mutations and genotype–phenotype correlation in large‐scale Chinese patients with Wilson Disease
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Spectrum of ATP7B mutations and genotype–phenotype correlation in large‐scale Chinese patients with Wilson Disease

Cheng, N. ; Wang, H. ; Wu, W. ; Yang, R. ; Liu, L. ; Han, Y. ; Guo, L. ; Hu, J. ; Xu, L. ; Zhao, J. ; Han, Y. ; Liu, Q. ; Li, K. ; Wang, X. ; Chen, W.

Clinical genetics, 2017-07, Vol.92 (1), p.69-79 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia
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Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

Mehta, SG ; Khare, M ; Ramani, R ; Watts, GDJ ; Simon, M ; Osann, KE ; Donkervoort, S ; Dec, E ; Nalbandian, A ; Platt, J ; Pasquali, M ; Wang, A ; Mozaffar, T ; Smith, CD ; Kimonis, VE

Clinical genetics, 2013-05, Vol.83 (5), p.422-431 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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Deste Autor:

  1. Yamamoto, G
  2. Passos-Bueno, M
  3. Hsia, G
  4. Wakeling, E
  5. Perez, B

Neste Assunto:

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

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

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