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19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype

Abe, Kikue Terada ; Rizzo, Isabela M. P. O ; Coelho, Ana L. V ; Sakai, Nilo ; Carvalho, Daniel R ; Speck‐Martins, Carlos E

Clinical Case Reports, 2018, Vol.6(7), p.1300-1307 [Peer Reviewed Journal]

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22q11.2 microduplication syndrome with associated esophageal atresia/tracheo‐esophageal fistula and vascular ring

Nguyen, Linda T ; Fleishman, Rachel ; Flynn, Emilee ; Prasad, Rajeev ; Moulick, Achintya ; Mesia, Cesar Igor ; Moyer, Sue ; Jethva, Reena

Clinical Case Reports, 2017, Vol.5(3), p.351-356 [Peer Reviewed Journal]

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3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations

Karimzadeh, Parvaneh ; Saberi, Mohammad ; Sheidaee, Kobra ; Nourbakhsh, Mitra ; Keramatipour, Mohammad

Clinical Case Reports, 2019, Vol.7(2), p.375-380 [Peer Reviewed Journal]

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47, XXX syndrome with infertility, premature ovarian insufficiency, and streak ovaries

Rafique, Munazzah ; Alobaid, Solaiman ; Al‐Jaroudi, Dania

Clinical Case Reports, 2019, Vol.7(6), p.1238-1241 [Peer Reviewed Journal]

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54‐cm enteric duplication cyst in a 13‐year‐old female

Elhasan, Mohamed Elghazali Ahmed Basheer ; Sirdab, Younis A ; Bakheit, Imad A

Clinical Case Reports, 2018, Vol.6(11), p.2099-2102 [Peer Reviewed Journal]

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A 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation

Connell, Patrick S ; Jeewa, Aamir ; Kearney, Debra L ; Tunuguntla, Hari ; Denfield, Susan W ; Allen, Hugh D ; Landstrom, Andrew P

Clinical Case Reports, 2018, Vol.7(1), p.211-217 [Peer Reviewed Journal]

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A 19 year follow‐up of a woman with lipoprotein lipase deficiency treated with biliopancreatic diversion

Nosso, Gabriella ; Capaldo, Brunella ; Cocozza, Sara ; Vaccaro, Olga

Clinical Case Reports, 2015, Vol.3(12), p.1030-1033 [Peer Reviewed Journal]

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A 39‐year‐old man with schizophrenia and tuberous sclerosis with a delusion of being a pregnant woman—A case report

Alzamil, Nada Adeeb ; Alkhalifa, Eiman Abdulhameed ; Azzoni, Faten

Clinical Case Reports, 2018, Vol.7(1), p.152-154 [Peer Reviewed Journal]

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A 9‐month‐old with wheezing and acute hypoxic respiratory failure

Wong, Matthew ; Bhatia, Rajeev

Clinical Case Reports, 2019, Vol.7(5), p.976-980 [Peer Reviewed Journal]

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A case for expanding carrier testing to include actionable X‐linked disorders

Rope, Alan F ; Kauffman, Tia L ; Himes, Pat ; Amendola, Laura M ; Punj, Sumit ; Akkari, Yassmine ; Potter, Amiee ; Davis, James V ; Schneider, Jennifer L ; Reiss, Jacob A ; Gilmore, Mari J ; Mcmullen, Carmit K ; Nickerson, Deborah A ; Richards, C. Sue ; Jarvik, Gail P ; Wilfond, Benjamin S ; Goddard, Katrina A. B

Clinical Case Reports, 2018, Vol.6(11), p.2092-2095 [Peer Reviewed Journal]

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