Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

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Molecular Genetics & Genomic Medicine, Vol. 3, Iss. 5, 2015-09 ,pp. : 413-423

John Wiley & Sons Inc

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A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1 β

By Lindner Tom H.  

Human Molecular Genetics, Vol. 8, Iss. 11, 1999-10 ,pp. : 2001-2008

Oxford University Press

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Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199–214 cluster in the skeletal features of the condition

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 12, 2015-12 ,pp. : 3153-3160

John Wiley & Sons Inc

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Crigler-Najjar Syndrome Type II is Inherited Both as a Dominant and as a Recessive Trait

By Koiwai Osamu   Aono Sachiko   Adachi Yukihiko   Kamisako Toshinori   Yasui Yoshihiro   Nishizawa Miwako   Sato Hiroshi  

Human Molecular Genetics, Vol. 5, Iss. 5, 1996-01 ,pp. : 645-647

Oxford University Press

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A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction

By Nallathambi Jeyabalan   Moumné Lara   Baere Elfride   Beysen Diane   Usha Kim   Sundaresan Periasamy   Veitia Reiner  

Human Genetics, Vol. 121, Iss. 1, 2007-03 ,pp. : 107-112

Springer Publishing Company

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