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Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator
Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator
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Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

Lumaka, A. ; Cosemans, N. ; Lulebo Mampasi, A. ; Mubungu, G. ; Mvuama, N. ; Lubala, T. ; Mbuyi‐Musanzayi, S. ; Breckpot, J. ; Holvoet, M. ; de Ravel, T. ; Van Buggenhout, G. ; Peeters, H. ; Donnai, D. ; Mutesa, L. ; Verloes, A. ; Lukusa Tshilobo, P. ; Devriendt, K.

Clinical genetics, 2017-08, Vol.92 (2), p.166-171 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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2
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
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Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

Vilboux, Thierry ; Doherty, Daniel A ; Glass, Ian A ; Parisi, Melissa A ; Phelps, Ian G ; Cullinane, Andrew R ; Zein, Wadih ; Brooks, Brian P ; Heller, Theo ; Soldatos, Ariane ; Oden, Neal L ; Yildirimli, Deniz ; Vemulapalli, Meghana ; Mullikin, James C ; Nisc Comparative Sequencing Program ; Malicdan, May Christine V ; Gahl, William A ; Gunay-Aygun, Meral

Genetics in medicine, 2017-08, Vol.19 (8), p.875-882 [Periódico revisado por pares]

United States: Elsevier Limited

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3
Kabuki syndrome: international consensus diagnostic criteria
Kabuki syndrome: international consensus diagnostic criteria
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Kabuki syndrome: international consensus diagnostic criteria

Adam, Margaret P ; Banka, Siddharth ; Bjornsson, Hans T ; Bodamer, Olaf ; Chudley, Albert E ; Harris, Jaqueline ; Kawame, Hiroshi ; Lanpher, Brendan C ; Lindsley, Andrew W ; Merla, Giuseppe ; Miyake, Noriko ; Okamoto, Nobuhiko ; Stumpel, Constanze T ; Niikawa, Norio

Journal of medical genetics, 2019-02, Vol.56 (2), p.89-95 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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4
Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2
Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2
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Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2

Lumaka, Aimé ; Van Hole, Christine ; Casteels, Ingele ; Ortibus, Els ; De Wolf, Veerle ; Vermeesch, Joris R ; Lukusa, Tshilobo ; Devriendt, Koen

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1381-1387 [Periódico revisado por pares]

United States: Wiley-Liss Inc

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5
VACTERL/VATER Association
VACTERL/VATER Association
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VACTERL/VATER Association

Solomon, Benjamin D

Orphanet journal of rare diseases, 2011-08, Vol.6 (1), p.56-56 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Butcher, Darci T. ; Cytrynbaum, Cheryl ; Turinsky, Andrei L. ; Siu, Michelle T. ; Inbar-Feigenberg, Michal ; Mendoza-Londono, Roberto ; Chitayat, David ; Walker, Susan ; Machado, Jerry ; Caluseriu, Oana ; Dupuis, Lucie ; Grafodatskaya, Daria ; Reardon, William ; Gilbert-Dussardier, Brigitte ; Verloes, Alain ; Bilan, Frederic ; Milunsky, Jeff M. ; Basran, Raveen ; Papsin, Blake ; Stockley, Tracy L. ; Scherer, Stephen W. ; Choufani, Sanaa ; Brudno, Michael ; Weksberg, Rosanna

American journal of human genetics, 2017-05, Vol.100 (5), p.773-788 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center
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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

Brooks, Brian P. ; Zein, Wadih M. ; Thompson, Amy H. ; Mokhtarzadeh, Maryam ; Doherty, Daniel A. ; Parisi, Melissa ; Glass, Ian A. ; Malicdan, May C. ; Vilboux, Thierry ; Vemulapalli, Meghana ; Mullikin, James C. ; Gahl, William A. ; Gunay-Aygun, Meral

Ophthalmology (Rochester, Minn.), 2018-12, Vol.125 (12), p.1937-1952 [Periódico revisado por pares]

United States: Elsevier Inc

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8
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
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BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

Aref-Eshghi, Erfan ; Bend, Eric G ; Hood, Rebecca L ; Schenkel, Laila C ; Carere, Deanna Alexis ; Chakrabarti, Rana ; Nagamani, Sandesh C S ; Cheung, Sau Wai ; Campeau, Philippe M ; Prasad, Chitra ; Siu, Victoria Mok ; Brady, Lauren ; Tarnopolsky, Mark A ; Callen, David J ; Innes, A Micheil ; White, Susan M ; Meschino, Wendy S ; Shuen, Andrew Y ; Paré, Guillaume ; Bulman, Dennis E ; Ainsworth, Peter J ; Lin, Hanxin ; Rodenhiser, David I ; Hennekam, Raoul C ; Boycott, Kym M ; Schwartz, Charles E ; Sadikovic, Bekim

Nature communications, 2018-11, Vol.9 (1), p.4885-15, Article 4885 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Craniofacial phenotypes associated with Robinow syndrome
Craniofacial phenotypes associated with Robinow syndrome
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Craniofacial phenotypes associated with Robinow syndrome

Conlon, Christopher J. ; Abu‐Ghname, Amjed ; Raghuram, Anjali C. ; Davis, Matthew J. ; Guillen, Diana E. ; Sutton, V. Reid ; Carvalho, Claudia M. B. ; Maricevich, Renata S.

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3606-3612 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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10
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders
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Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders

Radha Rama Devi, Akella ; Naushad, Shaik Mohammad ; Lingappa, Lokesh

Pediatric neurology, 2020-05, Vol.106, p.43-49 [Periódico revisado por pares]

United States: Elsevier Inc

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