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Author/Creator Midro, Alina T.

1. A 23‐year follow‐up of a male with Hajdu‐Cheney syndrome due to NOTCH2 mutation. Issue 11 (17th October 2018)

Authors:
Midro, Alina T.; Stasiewicz‐Jarocka, Beata; Borys, Jan; Kozłowski, Kazimierz; Skotnicka, Bożena; Tarasów, Eugeniusz; Hubert, Ewa; Konstantynowicz, Jerzy; Panasiuk, Barbara; Rydzanicz, Małgorzata; Pollak, Agnieszka; Stawiński, Piotr; Skowroński, Rafał; Płoski, Rafał
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2382
Record Type:
Journal Article
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2. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Issue 7 (21st March 2016)

Authors:
Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; ...
Journal:
Human mutation
Issue:
Volume 37:Issue 7(2016)
Page Start:
653
Record Type:
Journal Article
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3. Co‐segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B. (26th November 2014)

Authors:
Myśliwiec, Marta; Panasiuk, Barbara; Dębiec‐Rychter, Maria; Iwanowski, Piotr Sebastian; Łebkowska, Urszula; Nowakowska, Beata; Marcinkowska, Anna; Stankiewicz, Pawel; Midro, Alina T.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 2(2015:Feb.)
Page Start:
445
Record Type:
Journal Article
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4. Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35‐year‐old man initially diagnosed with Silver‐Russell syndrome. Issue 4 (11th January 2019)

Authors:
Midro, Alina T.; Tommerup, Niels; Borys, Jan; Panasiuk, Barbara; Kosztyła‐Hojna, Bożena; Zalewska, Renata; Konstantynowicz, Jerzy; Łebkowska, Urszula; Cooper, Lance; Scherer, Steven E.; Mehrjouy, Manna M.; Liu, Qian; Skowroński, Rafał; Stankiewicz, Paweł
Journal:
Clinical genetics
Issue:
Volume 95:Issue 4(2019)
Page Start:
534
Record Type:
Journal Article
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5. Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Issue 5 (31st January 2021)

Authors:
Glinton, Kevin E.; Hurst, Anna C. E.; Bowling, Kevin M.; Cristian, Ingrid; Haynes, Devon; Adstamongkonkul, Dusit; Schnappauf, Oskar; Beck, David B.; Brewer, Carole; Parikh, Aditi Shah; Shinde, Deepali N.; Donaldson, Alan; Brautbar, Ariel; Koene, Saskia; van Haeringen, Arie; Piton, Amélie; Capri, ...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 5(2021)
Page Start:
1366
Record Type:
Journal Article
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6. Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene. Issue 4 (30th January 2020)

Authors:
Midro, Alina T.; Stasiewicz‐Jarocka, Beata; Borys, Jan; Hubert, Ewa; Skotnicka, Bożena; Hassmann‐Poznańska, Elżbieta; Sierpińska, Teresa; Panasiuk, Barbara; Schanze, Denny; Zenker, Martin
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 4(2020)
Page Start:
773
Record Type:
Journal Article
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