Microdeletion 1p35.2: A recognizable facial phenotype with developmental delay

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 8, 2015-08 ,pp. : 1916-1920

John Wiley & Sons Inc

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A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects

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CONGENITAL ANOMALIES, Vol. 58, Iss. 1, 2018-01 ,pp. : 36-38

John Wiley & Sons Inc

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The Twist Gene, Although Not Disrupted In Saethre-Chotzen Patients With Apparently Balanced Translocations of 7p21, Is Mutated In Familial and Sporadic Cases

By Rose C.S. P.   Patel P.   Reardon W.   Malcolm S.   Winter R. M.  

Human Molecular Genetics, Vol. 6, Iss. 8, 1997-01 ,pp. : 1369-1373

Oxford University Press

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Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre‐Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9

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CONGENITAL ANOMALIES, Vol. 58, Iss. 1, 2018-01 ,pp. : 33-35

John Wiley & Sons Inc

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Identification of a Gene Disrupted by a Microdeletion in a Patient with X-Linked Retinitis Pigmentosa (XLRP)

By Roepman Ronald   Bauer David   Rosenberg Thomas   van Duijnhoven Gerard   van de Vosse Esther   Platzer Matthias   Rosenthal André   Ropers Hans-Hilger   Cremers Frans P. M.   Berger Wolfgang  

Human Molecular Genetics, Vol. 5, Iss. 6, 1996-01 ,pp. : 827-833

Oxford University Press

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