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I. C. B. Lund et al.
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GENE (2014)
Copy number variation in schizophrenia in Sweden
J. P. Szatkiewicz et al.
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Prenatal diagnosis: array comparative genomic hybridization in fetuses with abnormal sonographic findings
Else Marie Vestergaard et al.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA (2013)
Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature
Tatjana Bierhals et al.
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Estimates of penetrance for recurrent pathogenic copy-number variations
Jill A. Rosenfeld et al.
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Tracy Brandt et al.
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17q12 Microdeletion Syndrome: Three Patients Illustrating the Phenotypic Spectrum
Abhijit Dixit et al.
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Prenatally Diagnosed 17q12 Microdeletion Syndrome with a Novel Association with Congenital Diaphragmatic Hernia
Nancy W. Hendrix et al.
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S. Ledig et al.
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Bernward Hinkes et al.
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Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood
Stanislas Faguer et al.
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Sina Haeri et al.
AMERICAN JOURNAL OF PERINATOLOGY (2010)
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Sandesh Chakravarthy Sreenath Nagamani et al.
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Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion
Chantal Loirat et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2010)
Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the Young
Klemens Raile et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
Laura Bernardini et al.
ORPHANET JOURNAL OF RARE DISEASES (2009)
Recurrent reciprocal genomic Rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
Heather C. Mefford et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH
O. D. Klein et al.
CLINICAL GENETICS (2007)
Large genomic Rearrangements in the hepatocyte nuclear factor-1β (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5
C Bellanné-Chantelot et al.
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