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1 . Academic Journal
Identification of bone metabolism disorders in patients with Alström and Bardet-Biedl syndromes based on markers of bone turnover and mandibular atrophy
저자
by
Jeziorny, Krzysztof
;
Zmyslowska-Polakowska, Ewa
;
Wyka, Krystyna
;
Pyziak-Skupień, Aleksandra
;
Borowiec, Maciej
, et al.
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In
Bone Reports
December 2022 17
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7 . Academic Journal
Psychiatric Comorbidities in Pediatric Monogenic Diabetes due to GCK Mutation: Impact on Diabetes-Related Quality of Life
저자
by
Michalak, Arkadiusz
;
Szadkowska, Agnieszka
;
Mlynarski, Wojciech
;
Myśliwiec, Małgorzata
;
Deja, Grażyna
, et al.
소스
In
Journal of the Academy of Consultation-Liaison Psychiatry
November-December 2022 63(6):548-556
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7 . Academic Journal
Clinical use of NGS data from the targeted gene panel for mitochondrial diseases screening
저자
by
Płoszaj, Tomasz
;
Antosik, Karolina
;
Młudzik, Paulina
;
Traczyk-Borszyńska, Magdalena
;
Borowiec, Maciej
.
소스
In
Computer Methods and Programs in Biomedicine
October 2020 194
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7 . Academic Journal
Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage
저자
by
Chrzanowska - Steglińska, Marta
;
Moczulska, Hanna
;
Skoczylas, Beata
;
Pietrusiński, Michał
;
Antosik, Karolina
, et al.
소스
In
European Journal of Obstetrics & Gynecology and Reproductive Biology
September 2020 252:252-255
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7 . Academic Journal
Bartter[StQuote]s syndrome as a forgotten cause of polyhydramnios
저자
by
Malarska, Maria
;
Moczulska, Hanna
;
Pachniak, Paulina
;
Gadzalska, Karolina
;
Jakiel, Paulina
, et al.
소스
In
European Journal of Obstetrics & Gynecology and Reproductive Biology
February 2024 293
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7 . Academic Journal
Bone changes on lateral cephalograms and CBCT during treatment of maxillary narrowing using palatal osteodistraction with bone-anchored appliances
저자
by
Dowgierd, Krzysztof
;
Borowiec, Maciej
;
Kozakiewicz, Marcin
.
소스
In
Journal of Cranio-Maxillo-Facial Surgery
December 2018 46(12):2069-2081
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5 . Academic Journal
Perforin gene variation influences survival in childhood acute lymphoblastic leukemia
저자
by
Jaworowska, Aleksandra
;
Pastorczak, Agata
;
Trelinska, Joanna
;
Wypyszczak, Kamila
;
Borowiec, Maciej
, et al.
소스
In
Leukemia Research
February 2018 65:29-33
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7 . Academic Journal
A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing – Clinical characteristics of mutation carriers
저자
by
Szopa, Magdalena
;
Ludwig-Galezowska, Agnieszka H.
;
Radkowski, Piotr
;
Skupien, Jan
;
Machlowska, Julita
, et al.
소스
In
European Journal of Medical Genetics
February 2016 59(2):75-79
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7 . Academic Journal
Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivation
저자
by
Janczar, Szymon
;
Kosinska, Joanna
;
Ploski, Rafal
;
Pastorczak, Agata
;
Wegner, Olga
, et al.
소스
In
European Journal of Medical Genetics
January 2016 59(1):43-47
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7 . Academic Journal
Screening for Rare Mitochondrial Genome Variants Reveals a Potentially Novel Association between MT-CO1 and MT-TL2 Genes and Diabetes Phenotype.
저자
by
Płoszaj, Tomasz
;
Skoczylas, Sebastian
;
Gadzalska, Karolina
;
Jakiel, Paulina
;
Juścińska, Ewa
, et al.
소스
International Journal of Molecular Sciences
. Feb2024, Vol. 25 Issue 4, p2438. 8p.
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