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11
Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome
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Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome

Higashimoto, Ken ; Nakabayashi, Kazuhiko ; Yatsuki, Hitomi ; Yoshinaga, Hokuto ; Jozaki, Kosuke ; Okada, Junichiro ; Watanabe, Yoriko ; Aoki, Aiko ; Shiozaki, Arihiro ; Saito, Shigeru ; Koide, Kayoko ; Mukai, Tsunehiro ; Hata, Kenichiro ; Soejima, Hidenobu

American Journal of Medical Genetics Part A, 2012, Vol.158A (7), p.1670-1675

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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12
Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): A 25-year follow up
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Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): A 25-year follow up

Lowry, R. Brian ; Gould, Douglas B. ; Walter, Michael A. ; Savage, Paul R.

American Journal of Medical Genetics Part A, 2007, Vol.143A (11), p.1227-1230

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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13
Acute Mental Status Changes and Hyperchloremic Metabolic Acidosis with Long-Term Topiramate Therapy
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Acute Mental Status Changes and Hyperchloremic Metabolic Acidosis with Long-Term Topiramate Therapy

Stowe, Cindy D. ; Bolliger, Temple ; James, Laura P. ; Haley, Tonya M. ; Griebel, May L. ; Farrar III, Henry C.

Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, 2000, Vol.20 (1), p.105-109

Oxford, UK: Blackwell Publishing Ltd

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14
Acute promyelocytic leukaemia presenting as postpartum haemorrhage
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Acute promyelocytic leukaemia presenting as postpartum haemorrhage

Murrin, R. J. A. ; Adjetey, V. ; Harrison, P. ; Warwick, A.

Clinical & Laboratory Haematology, 2004, Vol.26 (3), p.233-237

Oxford, UK: Blackwell Science Ltd

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15
Alveolar soft-part sarcoma of the retroperitoneum
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Alveolar soft-part sarcoma of the retroperitoneum

ISHIKAWA, MASAKUNI ; ISHIZUKA, OSAMU ; NAKAYAMA, TSUYOSHI ; KOBAYASHI, SHINYA ; IGAWA, YASUHIKO ; NISHIZAWA, OSAMU ; SUGIMOTO, KOUJI ; YAMASHITA, TOSHIO ; MATSUSHITA, TAKAAKI

International Journal of Urology, 2006, Vol.13 (10), p.1355-1357

Melbourne, Australia: Blackwell Publishing Asia

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16
An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome
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An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome

Udaka, Toru ; Okamoto, Nobuhiko ; Aramaki, Michihiko ; Torii, Chiharu ; Kosaki, Rika ; Hosokai, Noboru ; Hayakawa, Toshiyuki ; Takahata, Naoyuki ; Takahashi, Takao ; Kosaki, Kenjiro

American Journal of Medical Genetics Part A, 2007, Vol.143A (7), p.721-726

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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17
Anaesthetic implications of LEOPARD syndrome
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Anaesthetic implications of LEOPARD syndrome

Torres, Javier ; Russo, Pierantonio ; Tobias, Joseph D.

Pediatric Anesthesia, 2004, Vol.14 (4), p.352-356

Oxford, UK: Blackwell Publishing Ltd

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18
AngioJet rheolytic thrombectomy in a neonate with pulmonary artery thrombus
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AngioJet rheolytic thrombectomy in a neonate with pulmonary artery thrombus

Nicholson, George T. ; Kogon, Brian ; Vincent, Robert

Catheterization and Cardiovascular Interventions, 2013, Vol.82 (5), p.E704-E707

Blackwell Publishing Ltd

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19
Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?
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Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?

Al-Gazali, Lihadh ; Shather, Bedir ; Kaplan, Waleed ; Algawi, Kais ; Ali, Bassam R.

American Journal of Medical Genetics Part A, 2009, Vol.149A (2), p.251-256

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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20
Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis
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Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis

Piccione, Maria ; Antona, R. ; Salzano, E. ; Cavani, S. ; Malacarne, M. ; Morreale Bubella, R. ; Pierluigi, M. ; Viaggi, C.D. ; Corsello, Giovanni

American Journal of Medical Genetics Part A, 2012, Vol.158A (1), p.150-154

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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